4ERN , 5IY9 , 5IVW , 5IY7 , 5IY8 , 5IY6
73-588: 2071 13872 ENSG00000163161 ENSMUSG00000024382 P19447 P49135 NM_000122 NM_001303416 NM_001303418 NM_133658 NP_000113 NP_001290345 NP_001290347 NP_598419 XPB ( xeroderma pigmentosum type B) is an ATP -dependent DNA helicase in humans that is a part of the TFIIH transcription factor complex. The 3D-structure of the archaeal homolog of XPB has been solved by X-ray crystallography by Dr. John Tainer and his group at The Scripps Research Institute . XPB plays
146-403: A complete blood count that may show infection. A comprehensive metabolic panel is ordered to rule out abnormal sugar levels (hypoglycemia or hyperglycemia) or electrolyte abnormalities (such as hyponatremia) as a cause. A lumbar puncture is mainly done if there is reason to believe infection or inflammation of the nervous system is occurring. Toxicology screening is also mainly done if history
219-505: A heterodimeric protein composed of two subunits. The larger subunit DDB1 primarily functions as a core component of CUL4A - and CUL4B -based E3 ubiquitin ligase complexes. Substrates that are ubiquitinnated by these complexes include proteins employed in DNA repair. The XPF ( ERCC4 ) protein together with the ERCC1 protein forms a complex usually designated ERCC1-XPF. This complex separates
292-488: A high risk of skin cancer , with about half having skin cancer by age 10 without preventative efforts, and cataracts . There may be a higher risk of other cancers such as brain cancers . XP is autosomal recessive , with mutations in at least nine specific genes able to result in the condition. Normally, the damage to DNA which occurs in skin cells from exposure to UV light is repaired by nucleotide excision repair . In people with xeroderma pigmentosum, this damage
365-405: A low risk of re-occurrence, but have a higher risk of death compared to those with epilepsy. Approximately 8–10% of people will experience an epileptic seizure during their lifetime. In adults, the risk of seizure recurrence within the five years following a new-onset seizure is 35%; the risk rises to 75% in persons who have had a second seizure. In children, the risk of seizure recurrence within
438-413: A number of causes. Seizures can be classified into provoked or unprovoked. Provoked seizures have a cause that is temporary and reversible. They are also known as Acute Symptomatic Seizures as they occur closely after the injury. Unprovoked seizures do not have a known cause or the cause is not reversible. Unprovoked seizures are typically considered epilepsy and treated as epilepsy. Of those who have
511-812: A number of genetic disorders such as Xeroderma pigmentosum , Cockayne's syndrome , and trichothiodystrophy . XPB has been shown to interact with: Potent, bioactive natural products like triptolide that inhibit mammalian transcription via inhibition of the XPB subunit of the general transcription factor TFIIH has been recently reported as a glucose conjugate for targeting hypoxic cancer cells with increased glucose transporter expression. Xeroderma pigmentosum XP1 / XP2 / XP3 / XP4 / XP5 / XP6 / XP7 Xeroderma pigmentosum I/II/III/IV/V/VI/VII Xeroderma pigmentosum complementation group A/B/C/D/E/F/G • 1 in 370 (India) • 1 in 22,000 (Japan) • 1 in 250,000 (US) • 1 in 430,000 (Europe) Xeroderma pigmentosum ( XP )
584-628: A risk of causing epilepsy. Infection with the pork tapeworm , which can cause neurocysticercosis , is the cause of up to half of epilepsy cases in areas of the world where the parasite is common. Meningitis and encephalitis also carry the risk of causing long-term epilepsy as well. During childhood, well-defined epilepsy syndromes are generally seen. Examples include Dravet Syndrome , Lennox-Gastaut Syndrome , and Juvenile Myoclonic Epilepsy . Neurons function by either being excited or inhibited. Excited neurons fire electrical charges while inhibited neurons are prevented from firing. The balance of
657-445: A seizure for a prolonged time. Other conditions that commonly get mistaken for a seizure include syncope , psychogenic nonepileptic seizures , cardiac arrhythmias , migraine headaches , and stroke / transient ischemic attacks . There are times when a person has never had a seizure but anti-seizure medications are started to prevent seizures in those at risk. Following traumatic brain injury , anti-seizure medications decrease
730-409: A seizure have such a bite. Weakness of one limb or asymmetric reflexes are also signs a seizure just occurred. Presence of urinary incontinence or fecal incontinence also strongly suggests a seizure occurred. However, most people who have had a seizure will have a normal physical exam. Blood tests can determine if there are any reversible causes of the seizure (provoked seizures). This includes
803-898: A seizure, about 25% have epilepsy . Those with epilepsy may have certain triggers that they know cause seizures to occur, including emotional stress, sleep deprivation, and flickering lights. Dehydration can trigger epileptic seizures by changing electrolyte balances. Low blood sugar, low blood sodium , high blood sugar , high blood sodium , low blood calcium , high blood urea , and low blood magnesium levels may cause seizures. Up to 9% of status epilepticus cases occur due to drug intoxication. Common drugs involved include antidepressants , stimulants ( cocaine ), and antihistamines . Withdrawal seizures commonly occur after prolonged alcohol or sedative use. In people who are at risk of developing epileptic seizures, common herbal medicines such as ephedra , ginkgo biloba and wormwood can provoke seizures. Systemic infection with high fever
SECTION 10
#1732781066328876-724: A significant role in normal basal transcription, transcription coupled repair (TCR), and nucleotide excision repair (NER). Purified XPB has been shown to unwind DNA with 3’-5’ polarity. The function of the XPB(ERCC3) protein in NER is to assist in unwinding the DNA double helix after damage is initially recognized. NER is a multi-step pathway that removes a wide range of different DNA damages that distort normal base pairing. Such damages include bulky chemical adducts, UV-induced pyrimidine dimers, and several forms of oxidative damage . Mutations in
949-496: A treatment option. Epilepsy surgery is especially useful for those with focal seizures where the seizures are coming from a specific part of the brain. The amount of brain removed during the surgery depends on the extent of the brain involved in the seizures. It can range from just removing one lobe of the brain ( temporal lobectomy ) to disconnecting an entire side of the brain ( hemispherectomy ). The procedure can be curative, where seizures are eliminated completely. However, if it
1022-444: Is a genetic disorder in which there is a decreased ability to repair DNA damage such as that caused by ultraviolet (UV) light. Symptoms may include a severe sunburn after only a few minutes in the sun, freckling in sun-exposed areas, dry skin and changes in skin pigmentation. Nervous system problems, such as hearing loss , poor coordination, loss of intellectual function and seizures , may also occur. Complications include
1095-470: Is a common cause of seizures, especially in children. These are called febrile seizures and occur in 2–5% of children between the ages of six months and five years. Acute infection of the brain, such as encephalitis or meningitis are also causes of seizures. Acute stroke or brain bleed may lead to seizures. Stroke is the most common cause of seizures in the elderly population. Post-stroke seizures occur in 5-7% of those with ischemic strokes. It
1168-534: Is a person's first seizure and it was "provoked", or caused by another condition, treatment of the cause is usually enough to treat the seizure. If the seizure is "unprovoked", brain imaging is abnormal, and/or EEG is abnormal, start anti-seizure medications is generally recommmended. A seizure can last from a few seconds to 5 minutes. Once it reaches and passes 5 minutes, it is known as status epilepticus . Accidental urination ( urinary incontinence ), stool leaking ( fecal incontinence ), tongue biting, foaming of
1241-408: Is a sudden change in behavior, movement, and/or consciousness due to abnormal electrical activity in the brain . Seizures can look different in different people. It can be uncontrolled shaking of the whole body ( tonic-clonic seizures ) or a person spacing out for a few seconds ( absence seizures ). Most seizures last less than two minutes. They are then followed by confusion/drowsiness before
1314-401: Is also important in evaluating risk for epilepsy. History regarding medication use, substance use, and alcohol use is important in determining a cause of the seizure. Most people are in a postictal state (drowsy or confused) following a seizure. A bite mark on the side of the tongue or bleeding from the mouth strongly indicates a seizure happened. But only a third of people who have had
1387-440: Is an autosomal recessive genetic defect in which nucleotide excision repair (NER) enzymes are mutated, leading to a reduction in or elimination of NER. If left unchecked, damage caused by ultraviolet light can cause mutations in individual cell's DNA. The causes of the neurological abnormalities are poorly understood and are not connected with exposure to ultraviolet light. The most current theories suggest that oxidative DNA damage
1460-421: Is based on the type of seizure. Anti-seizure medications may be slowly stopped after a period of time if a person has just experienced one seizure and has not had anymore. The decision to stop anti-seizure medications should be discussed between the doctor and patient, weighing the benefits and risks. In severe cases where seizures are uncontrolled by at least two anti-seizure medications, brain surgery can be
1533-540: Is called recovery position . Timing of the seizure is also important. If a seizure is longer than five minutes, or there are two or more seizures occurring in five minutes, it is a medical emergency known as status epilepticus . Emergency services should be called. The first line medication for an actively seizing person is a benzodiazepine , with most guidelines recommending lorazepam . Diazepam and midazolam are alternatives. It may be given in IV if emergency services
SECTION 20
#17327810663281606-457: Is employed in unwinding the DNA duplex after damage is initially recognized. Mutations in the XPD(ERCC2) gene cause a variety of syndromes; XP, trichothiodystrophy (TTD), or a combination of XP and Cockayne syndrome (XPCS). Both trichothiodystrophy and Cockayne syndrome display features of premature aging, suggesting an association between deficient DNA repair and premature aging . XPE is
1679-710: Is estimated to result in costs of US$ 1.7 billion or 0.5% of the GDP. They make up about 1% of emergency department visits (2% for emergency departments for children) in the United States. Scientific work into the prediction of epileptic seizures began in the 1970s. Several techniques and methods have been proposed, but evidence regarding their usefulness is still lacking. Two promising areas include: (1) gene therapy , and (2) seizure detection and seizure prediction . Gene therapy for epilepsy consists of employing vectors to deliver pieces of genetic material to areas of
1752-518: Is found, it is called an idiopathic seizure. After a first unprovoked seizure, the chance of experiencing a second one is about 40% within 2 years. People with repeated unprovoked seizures are diagnosed with epilepsy . Doctors assess a seizure by first ruling out other conditions that look similar to seizures, such as fainting and strokes. This includes taking a detailed history and ordering blood tests. They may also order an electroencephalogram (EEG) and brain imaging (CT and/or MRI). If it
1825-403: Is generated during normal metabolism in the central nervous system, and that some types of this damage must be repaired by NER. Since DNA repair is under genetic control, it can mutate. Many genetic disorders such as xeroderma pigmentosum (XP; MIM 278700) are caused by mutations in genes that repair damaged DNA. XP affects the mechanism that repairs UV damage in skin cell DNA. Those affected with
1898-413: Is higher in those who experienced brain bleeds, with 10-16% risk in those patients. Recent traumatic brain injury may also lead to seizures. 1 to 5 of every 10 people who have had traumatic brain injury have experienced at least one seizure. Seizures may occur within 7 days of the injury (early posttraumatic seizure ) or after 7 days have passed (late posttraumatic seizure). Space-occupying lesions in
1971-498: Is loss of inhibitory neurons because they die due to the injury. The brain may also adapt and make new neuron connections that may be hyper-excitatory. Brief seizures, such as absence seizures lasting 5–10 seconds, do not cause observable brain damage. More prolonged seizures have a higher risk of neuronal death. Prolonged and recurrent seizures, such as status epilepticus, typically cause brain damage. Scarring of brain tissue ( gliosis ), neuronal death, and shrinking of areas of
2044-412: Is no cure for xeroderma pigmentosum. The most common fate for individuals with XP is early death from cancer. The XPA protein acts during NER as a scaffold for assembly of other DNA repair proteins at sites of DNA damage to ensure appropriate excision of the damage. The XPB (ERCC3) protein is employed in unwinding the DNA double helix after DNA damage is initially recognized. Mutations in
2117-446: Is not curative, it can be palliative that reduces the frequency of seizures but does not eliminate it. Helmets may be used to provide protection to the head during a seizure. Some claim that seizure response dogs , a form of service dog , can predict seizures. Evidence for this, however, is poor. Cannabis has also been used for the management of seizures that do not respond to anti-seizure medications. Research on its effectiveness
2190-422: Is not recommended. While both fever medications ( antipyretics) and anti-seizure medications reduce reoccurrence, the harmless nature of febrile seizures outweighs the risks of these medications. However, if it was a complex febrile seizure, EEG should be done. If EEG is abnormal, starting prophylactic anti-seizure medications is recommended. During an active seizure, the person seizing should be slowly laid on
2263-403: Is not repaired. As more abnormalities form in DNA, cells malfunction and eventually become cancerous or die. Diagnosis is typically suspected based on symptoms and confirmed by genetic testing . There is no cure for XP. Treatment involves completely avoiding the sun . This includes protective clothing, sunscreen and dark sunglasses when out in the sun. Retinoid creams may help decrease
XPB - Misplaced Pages Continue
2336-430: Is ongoing, but current research shows that it does reduce seizure frequency. A ketogenic diet or modified Atkins diet may help in those who have epilepsy who do not improve following typical treatments, with evidence for its effectiveness growing. Following a person's first seizure, they are legally not allowed to drive until they are seizure-free for a period of time. This period of time varies between states, but
2409-602: Is present. Rectal and intranasal forms also exist if a child has had seizures previously and was prescribed the rescue medication. If seizures continue, second-line therapy includes phenytoin , fosphenytoin , and phenobarbital . Levetiracetam or valproate may also be used. Starting anti-seizure medications is not typically recommended if it was a provoked seizure that can be corrected. Examples of causes of provoked seizures that can be corrected include low blood sugar, low blood sodium, febrile seizures in children, and substance/medication use. Starting anti-seizure medications
2482-406: Is recommended to start anti-seizure medication. If a person has an unprovoked seizure, but physical exam is normal, EEG is normal, and brain imaging is normal, then anti-seizure medication may not be needed. The decision to start anti-seizure medications should be made after a discussion between the patient and doctor. In children with one simple febrile seizure , starting anti-seizure medications
2555-430: Is suggestive. Brain imaging by CT scan and MRI is recommended after a first seizure, especially if no provoking factors are discovered . It is done to detect structural problems inside the brain, such as tumors. MRI is generally the better imaging test, but CT scan is preferred when intracranial bleeding is suspected. Imaging may be done at a later point in time in those who return to their normal selves while in
2628-404: Is usually between 6 and 12 months. They are also cautioned against working at heights and swimming alone in case a seizure occurs. Following a first unprovoked seizure, the risk of more seizures in the next two years is around 40%. Starting anti-seizure medications reduces recurrence of seizures by 35% within the first two years. The greatest predictors of more seizures are problems either on
2701-520: Is usually for those with medium to high risk of seizures re-occurring. This includes people with unprovoked seizures with abnormal brain imaging or abnormal EEG. It also includes those who have had more than one unprovoked seizure more than 24 hours apart. It is recommended to start with one anti-seizure medication. Another may be added if one is not enough to control the seizure occurrence. Approximately 70% of people can obtain full control with continuous use of medication. The type of medication used
2774-511: The XPB(ERCC3) gene can lead to XP or XP combined with Cockayne syndrome . The XPC protein forms a complex with RAD23B protein to form the initial damage recognition factor in global genomic nucleotide excision repair (GG-NER). This complex recognizes a wide variety of damages that thermodynamically destabilize DNA duplexes. The XPD ( ERCC2 ) protein, in combination with the XPB helicase-containing transcription/repair complex TFIIH ,
2847-405: The DNA helix for a short distance on either side of the site of damage. It then acts as an endonuclease to incise the damaged DNA strand on the 5' side of the damaged site. Mutant cells with deficient ERCC1-XPF are not only defective in NER, but also in the repair of double-strand breaks and inter-strand crosslinks. The XPG protein is an endonuclease that incises DNA during NER at the 3' side of
2920-511: The Dark , was based on the story of the real-life couple Jim and Kim Harrison, whose two daughters have XP. Lurlene McDaniel 's young adult book How I Do Love Thee features the story "Night Vision", in which the protagonist, leukemia survivor Brett, falls in love with a girl named Shayla that has XP. Christopher Snow, the protagonist of novelist Dean Koontz's Moonlight Bay Trilogy , has XP and therefore must live most of his life during
2993-457: The EEG or on imaging of the brain. Those with normal EEG and normal physical exam following a first unprovoked seizure had less of risk of recurrence in the next two years, with a risk of 25%. In adults, after 6 months of being seizure-free after a first seizure, the risk of a subsequent seizure in the next year is less than 20% regardless of treatment. Those who have a seizure that is provoked have
XPB - Misplaced Pages Continue
3066-615: The Sacred Disease , who proposed that the source of epilepsy was from natural causes rather than supernatural ones. Early surgical treatment of epilepsy was primitive in Ancient Greek, Roman and Egyptian medicine. The 19th century saw the rise of targeted surgery for the treatment of epileptic seizures, beginning in 1886 with localized resections performed by Sir Victor Horsley , a neurosurgeon in London. Another advancement
3139-520: The Sun , a 1988 American-Yugoslavian drama film , was directed by Božidar Nikolić and stars Brad Pitt for his first ever leading role as a young man in search of a cure for his disorder. The Others , a 2001 American psychological horror film starring Nicole Kidman , features two children, Anne and Nicholas, who must avoid all sunlight because of a rare disease characterized by photosensitivity . A CBS television movie aired in 1994, Children of
3212-657: The XP problem on the Navajo Indian Reservation, and links it to the genetic legacy of the Long Walk of the Navajo , when the Navajo people were forced to move to a new location. The 2016 Vietnamese romance drama Khúc hát mặt trời , based on a 2006 Japanese film, A Song to the Sun , tells the story of a girl named Yến Phương with XP and the impact of her sickness on her life and relationships, following
3285-472: The XPB(ERCC3) gene can lead, in humans, to xeroderma pigmentosum (XP) or XP combined with Cockayne syndrome (XPCS). Mutant XPB cells from individuals with the XPCS phenotype are sensitive to UV irradiation and acute oxidative stress. XPB helicase is also a component of the p53 -mediated programmed cell death ( apoptosis ) pathway. Mutations in XPB and other related complementation groups, XPA-XPG, leads to
3358-473: The autosomal recessive disorder XP are extremely sensitive to UV light produced by the sun and develop pigmented spots, tumors, and skin cancer with minimal exposure. Individuals with XP are about 1,000 times more likely to develop skin cancer than individuals without the disorder. The molecular defects in XP cells result in a greatly elevated induction of mutations in sun-exposed skin of affected individuals. This increased mutation frequency probably accounts for
3431-496: The brain ( abscesses , tumours ) are one cause of unprovoked seizures. In people with brain tumours , the frequency of epilepsy depends on the location of the tumor in the cortical region . Abnormalities in blood vessels of the brain ( Arteriovenous malformation ) can also cause epilepsy. In babies and children, congenital brain abnormalities, such as lissencephaly or polymicrogyria , will also result in epilepsy. Hypoxic-ischemic encephalopathy in newborns will also predispose
3504-415: The brain ( atrophy ) are linked to recurrent seizures. These changes may lead to the development of epilepsy. Diagnosis of seizures involve gathering history, doing a physical exam, and ordering tests. These are done to classify the seizure and determine if the seizure is provoked or unprovoked. Events leading up to the seizure and what movements occurred during the seizure are important in classifying
3577-415: The brain that is affected. Focal seizures usually consist of motor symptoms or sensory symptoms. Generalized seizures affect both sides of the brain and typically involve both sides of the body. They all involve a loss of consciousness and usually happen without warning. There are six main types of generalized seizures: tonic-clonic, tonic, clonic, myoclonic, absence, and atonic seizures. Seizures have
3650-890: The damaged nucleotide. Mutations in the XPG ( ERCC5 ) gene can lead to XP alone, or in combination with Cockayne syndrome (CS), or in combination with infantile lethal cerebro-oculo-facio-skeletal syndrome. There are seven complementation groups, plus one variant form: There is no cure for the disorder; all treatment is symptomatic or preventive. Symptoms can be avoided or controlled by completely avoiding exposure to sunlight, either by staying indoors or wearing protective clothing and using sunscreen when outdoors. Keratosis can also be treated by using cryotherapy or fluorouracil . In more severe cases of XP, even minuscule amounts of UV light, for example, from covered windows or fluorescent bulbs, can be very dangerous and trigger symptoms. On September 10, 2020, Clinuvel Pharmaceuticals announced that it
3723-451: The dark , children of the night , and vampire children . These terms can be considered derogatory. XP has been a plot element in several fictional works. One of the common themes in films about XP is whether teens with XP will risk sun exposure in pursuit of a romantic partner. Film series like Children of Darkness , a German silent-drama film which was released in two parts in the year of 1921 and 1922 respectively, were among some of
SECTION 50
#17327810663283796-458: The disease itself, and also better understanding the normal biological mechanisms involved in DNA repair. Research into XP has produced insights that have been translated into treatments and prevention for cancer. see also Template:Congenital malformations and deformations of skin appendages , Template:Phakomatoses , Template:Pigmentation disorders , Template:DNA replication and repair-deficiency disorder Seizures A seizure
3869-427: The emergency room. An electroencephalography (EEG) measures the brain's electrical activity. It is used in cases of first seizures that have no provoking factor, normal head imaging, and no prior history of head trauma. It will help determine the type of seizure or epilepsy syndrome present, as well as where the seizures are coming from if its focal. It is also used when a person has not returned to baseline after
3942-441: The five years following a single unprovoked seizure is about 50%; the risk rises to about 80% after two unprovoked seizures. In the United States in 2011, seizures resulted in an estimated 1.6 million emergency department visits; approximately 400,000 of these visits were for new-onset seizures. Epileptic seizures were first described in an Akkadian text from 2000 B.C. Early reports of epilepsy often saw seizures and convulsions as
4015-429: The floor. Witnesses should not try to stop the convulsions or other movements. Potentially sharp or dangerous objects should be moved from the area around a person experiencing a seizure so that the individual is not hurt. Nothing should be placed in the person's mouth as it is a choking hazard. After the seizure, if the person is not fully conscious and alert, they should be turned to their side to prevent choking. This
4088-409: The initially popular movies that were made about XP. Other films, like the 1964 American drama film Della , starring Joan Crawford , Paul Burke , Charles Bickford and Diane Baker , directed by Robert Gist , which was originally produced by Four Star Television as a television pilot for a proposed NBC series named Royal Bay , was also based on this skin disease . The Dark Side of
4161-432: The lack of inhibition of neurons resulting in seizures. Glutamate serves to excite neurons into firing when appropriate. It was found to be increased in those with epilepsy. This is a possible mechanism for why there is hyper-excitability of neurons in seizures. Seizures that occur after brain injury may be due to the brain adapting to injury ( neuroplasticity ). This process is known as epileptogenesis . There
4234-430: The mouth, and turning blue due to inability to breathe commonly are seen in seizures. A period of confusion typically follows the seizure that lasts from seconds to hours before a person returns to normal. This period is called a postictal period . Other symptoms during this period include drowsiness, headache, difficulty speaking, psychosis, and weakness. Observable signs and symptoms of seizures vary depending on
4307-626: The newborn to epilepsy. Strokes, brain bleeds, and traumatic brain injury can all also lead to epilepsy if seizures re-occur. If the first seizure occurs more than 7 days following a stroke, there is a higher chance of the person developing epilepsy. Post-stroke epilepsy accounts for 30%-50% of new epilepsy cases. This is also the case for traumatic brain injury, with 80% of people with late posttraumatic seizures having another seizure occur, classifying it as epilepsy. Infections of newborns that occur while before or during birth, such as herpes simplex virus , rubella , and cytomegalovirus , all carry
4380-529: The night. The first two entries of the trilogy, Fear Nothing and Seize the Night , were both published in 1998. The final entry in the trilogy, tentatively titled Ride the Storm , has yet to be published as of August 2020. The 2011 French drama film The Moon Child is based on a 13-year-old child with XP, which prevents him from exposing himself to daylight. The 2012 documentary Sun Kissed explores
4453-542: The person returns to normal. If a seizure lasts longer than 5 minutes, it is a medical emergency ( status epilepticus ) and needs immediate treatment. Seizures can be classified as provoked or unprovoked. Provoked seizures have a cause that can be fixed, such as low blood sugar , alcohol withdrawal , high fever , recent stroke , and recent head trauma . Unprovoked seizures have no clear cause or fixable cause. Examples include past strokes, brain tumors, brain vessel malformations, and genetic disorders. If no cause
SECTION 60
#17327810663284526-426: The pigmentation changes and the skin cancers. Examination of mutations in the p53 gene in tumors from XP patients reveal p53 mutations characteristic of UV exposure in the majority of tumors As with all genetic disorders, genetic counseling and psychological support is appropriate for the families to discuss probability of occurrence in future pregnancies, feelings of isolation and concern about career prospects. There
4599-410: The risk of early seizures but not late seizures. However, there is no clear evidence that anti-seizure medications are effective at preventing seizures following brain surgery ( craniotomy) , a brain bleed, or after a stroke . Prevention of seizures from re-occurring after a first seizure depends on many factors. If it was an unprovoked seizure with abnormal brain imaging or abnormal EEG, then it
4672-641: The risk of skin cancer. Vitamin D supplementation is generally required. If skin cancer occurs, it is treated in the usual way. The life expectancy of those with the condition is about 30 years less than normal. The disease affects about 1 in 100,000 worldwide. By region, it affects about 1 in 370 in India, 1 in 20,000 in Japan, 1 in 250,000 people in the United States and 1 in 430,000 in Europe. It occurs equally commonly in males and females. Xeroderma pigmentosum
4745-414: The story of Phương's accidental exposure to sunlight and subsequent neurological degeneration. Midnight Sun (2018 film) is a 2018 American romantic drama film based on the 2006 Japanese film A Song to the Sun. The film was directed by Scott Speer and written by Eric Kirsten, and stars Bella Thorne, Patrick Schwarzenegger, and Rob Riggle. Research into XP has had two main results: better understanding
4818-556: The two maintains our central nervous system. In those with seizures, neurons are both hyperexcitable and hypersynchronous, where many neurons fire numerously at the same time. This may be due to an imbalance of excitation and inhibition of neurons. γ-aminobutyric acid (GABA) and Glutamate are chemicals called neurotransmitters that work by opening or closing ion channels on neurons to cause inhibition or excitability. GABA serves to inhibit neurons from firing. It has been found to be decreased in epilepsy patients. This may explain
4891-709: The type of seizure. The person's memory of what happened before and during the seizure is also important. However, since most people that experience seizures do not remember what happened, it is best to get history from a witness when possible. Video recording of the seizure is also helpful in diagnosis of seizures. Events that occurred after the seizure are also an important part of the history. Past medical history, such as past head trauma, past strokes, past febrile seizures, or past infections, are helpful. In babies and children, information about developmental milestones, birth history, and previous illnesses are important as potential epilepsy risk factors. Family history of seizures
4964-402: The type. Seizures can be classified into generalized seizures and focal seizures, depending on what part of the brain is involved. Focal seizures affect a specific area of the brain, not both sides. It may turn into a generalized seizure if the seizure spreads through the brain. Consciousness may or may not be impaired. The signs and symptoms of these seizures depends on the location of
5037-494: The work of " evil spirits ". The perception of epilepsy, however, began to change in the time of Ancient Greek medicine. The term "epilepsy" itself is a Greek word, which is derived from the verb "epilambanein", meaning "to seize, possess, or afflict". Although the Ancient Greeks referred to epilepsy as the " sacred disease ", this perception of epilepsy as a "spiritual" disease was challenged by Hippocrates in his work On
5110-433: Was first described in 1874 by Hebra and Moritz Kaposi . In 1882, Kaposi coined the term xeroderma pigmentosum for the condition, referring to its characteristic dry, pigmented skin. The 1968 paper about XP by James Cleaver demonstrated the link between UV-induced DNA damage, faulty DNA repair and cancer. Because people with XP need to strictly avoid sunlight, but can go outside at night, they have been called children of
5183-402: Was first described in the 1870s by Moritz Kaposi . In 1882, Kaposi coined the term xeroderma pigmentosum for the condition, referring to its characteristic dry, pigmented skin. Individuals with the disease have been referred to as "children of the night" or "moon children". Signs and symptoms of xeroderma pigmentosum may include: One of the most frequent defects in xeroderma pigmentosum
5256-670: Was investigating the use of its FDA-approved flagship drug Scenesse as a potential treatment to increase pain-free light exposure for patients with xeroderma pigmentosum. In the United States , the probability for individuals with the disorder to survive until 40 years of age may be as high as 70% if they have never been exposed to sunlight in their life. If a person is diagnosed early, does not have severe neurological symptoms, and takes precautionary measures to completely avoid any exposure to UV light and sunlight, they may be able to survive until middle age. Xeroderma pigmentosum
5329-495: Was that of the development by the Montreal procedure by Canadian neurosurgeon Wilder Penfield , which involved use of electrical stimulation among conscious patients to more accurately identify and resect the epileptic areas in the brain. Seizures result in direct economic costs of about one billion dollars in the United States. Epilepsy results in economic costs in Europe of around €15.5 billion in 2004. In India, epilepsy
#327672