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Epilepsy, idiopathic generalized, susceptibility to, 13(EIG13)

MedGen UID:
861910
Concept ID:
C4013473
Finding
Synonyms: Epilepsy, juvenile myoclonic 5; EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 5
 
Gene (location): GABRA1 (5q34)
 
Monarch Initiative: MONDO:0012627
OMIM®: 611136

Definition

Childhood absence epilepsy and juvenile myoclonic epilepsy are both subtypes of what has classically been called idiopathic generalized epilepsy (IGE, EIG; see 600669). For a phenotypic description and a discussion of genetic heterogeneity of idiopathic generalized epilepsy, see 600669. For a phenotypic description and a discussion of genetic heterogeneity of juvenile myoclonic epilepsy and childhood absence epilepsy, see ECA1 (600131) and JME (254770), respectively. [from OMIM]

Additional description

From MedlinePlus Genetics
Juvenile myoclonic epilepsy is a condition characterized by recurrent seizures (epilepsy). This condition begins in childhood or adolescence, usually between ages 12 and 18, and lasts into adulthood. The most common type of seizure in people with this condition is myoclonic seizures, which cause rapid, uncontrolled muscle jerks. People with this condition may also have generalized tonic-clonic seizures (also known as grand mal seizures), which cause muscle rigidity, convulsions, and loss of consciousness. Sometimes, affected individuals have absence seizures, which cause loss of consciousness for a short period that appears as a staring spell. Typically, people with juvenile myoclonic epilepsy develop the characteristic myoclonic seizures in adolescence, then develop generalized tonic-clonic seizures a few years later. Although seizures can happen at any time, they occur most commonly in the morning, shortly after awakening. Seizures can be triggered by a lack of sleep, extreme tiredness, stress, or alcohol consumption.  https://medlineplus.gov/genetics/condition/juvenile-myoclonic-epilepsy

Recent clinical studies

Etiology

Arsov T, Mullen SA, Rogers S, Phillips AM, Lawrence KM, Damiano JA, Goldberg-Stern H, Afawi Z, Kivity S, Trager C, Petrou S, Berkovic SF, Scheffer IE
Ann Neurol 2012 Nov;72(5):807-15. doi: 10.1002/ana.23702. PMID: 23280796

Diagnosis

Arsov T, Mullen SA, Rogers S, Phillips AM, Lawrence KM, Damiano JA, Goldberg-Stern H, Afawi Z, Kivity S, Trager C, Petrou S, Berkovic SF, Scheffer IE
Ann Neurol 2012 Nov;72(5):807-15. doi: 10.1002/ana.23702. PMID: 23280796

Prognosis

Arsov T, Mullen SA, Rogers S, Phillips AM, Lawrence KM, Damiano JA, Goldberg-Stern H, Afawi Z, Kivity S, Trager C, Petrou S, Berkovic SF, Scheffer IE
Ann Neurol 2012 Nov;72(5):807-15. doi: 10.1002/ana.23702. PMID: 23280796

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