Epilepsy, idiopathic generalized, susceptibility to, 10(EIG10)

MedGen UID:: 414062
•Concept ID:: C2751603
•: Finding

Synonym:	Epilepsy, idiopathic generalized 10

Gene (location): Gene(s) directly associated with this condition or phenotype.	GABRD (1p36.33)

Monarch Initiative:	MONDO:0013103
OMIM®:	613060

Definition

Idiopathic generalized epilepsy (EIG) is a broad term that encompasses several common seizure phenotypes, classically including childhood absence epilepsy (CAE, ECA), juvenile absence epilepsy (JAE), and juvenile myoclonic epilepsy (JME, EJM) (Commission on Classification and Terminology of the International League Against Epilepsy, 1989). Generalized epilepsy with febrile seizures plus (GEFS+) shows phenotypic overlap with EIG, and includes patients with early-onset febrile seizures who later develop various types of febrile and afebrile seizures, such as those observed in EIG (summary by Singh et al., 1999). For a general phenotypic description and a discussion of genetic heterogeneity of GEFS+, see 604233. [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

Clinical features

From HPO

Febrile seizure (within the age range of 3 months to 6 years)

MedGen UID:: 3232
•Concept ID:: C0009952
•: Disease or Syndrome

A febrile seizure is any type of seizure (most often a generalized tonic-clonic seizure) occurring with fever (at least 38 degrees Celsius) but in the absence of central nervous system infection, severe metabolic disturbance or other alternative precipitant in children between the ages of 3 months and 6 years.

See: Feature record | Search on this feature

Bilateral tonic-clonic seizure

MedGen UID:: 141670
•Concept ID:: C0494475
•: Sign or Symptom

A bilateral tonic-clonic seizure is a seizure defined by a tonic (bilateral increased tone, lasting seconds to minutes) and then a clonic (bilateral sustained rhythmic jerking) phase.

See: Feature record | Search on this feature

Focal-onset seizure

MedGen UID:: 199670
•Concept ID:: C0751495
•: Disease or Syndrome

A focal-onset seizure is a type of seizure originating within networks limited to one hemisphere. They may be discretely localized or more widely distributed, and may originate in subcortical structures.

See: Feature record | Search on this feature

Generalized myoclonic seizure

MedGen UID:: 892704
•Concept ID:: C4021759
•: Disease or Syndrome

A generalized myoclonic seizure is a type of generalized motor seizure characterized by bilateral, sudden, brief (<100 ms) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal). Myoclonus is less regularly repetitive and less sustained than is clonus.

See: Feature record | Search on this feature

Generalized non-motor (absence) seizure

MedGen UID:: 1385688
•Concept ID:: C4316903
•: Disease or Syndrome

A generalized non-motor (absence) seizure is a type of a type of dialeptic seizure that is of electrographically generalized onset. It is a generalized seizure characterized by an interruption of activities, a blank stare, and usually the person will be unresponsive when spoken to. Any ictal motor phenomena are minor in comparison to these non-motor features.

See: Feature record | Search on this feature

Abnormality of the nervous system

Recent clinical studies

Etiology

Polygenic risk scores as a marker for epilepsy risk across lifetime and after unspecified seizure events.

Heyne HO, Pajuste FD, Wanner J, Daniel Onwuchekwa JI, Mägi R, Palotie A; FinnGen; Estonian Biobank research team, Kälviainen R, Daly MJ
Nat Commun 2024 Jul 25;15(1):6277. doi: 10.1038/s41467-024-50295-z. PMID: 39054313 Free PMC Article

See all (1)