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Epilepsy, idiopathic generalized, susceptibility to, 18(EIG18)

MedGen UID:
1794193
Concept ID:
C5561983
Finding
Synonyms: EIG18; EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 18
 
Gene (location): HCN4 (15q24.1)
 
Monarch Initiative: MONDO:0030434
OMIM®: 619521

Definition

Idiopathic generalized epilepsy is characterized by various types of seizures, including childhood and juvenile absence epilepsy, juvenile myoclonic epilepsy, and epilepsy with generalized tonic-clonic seizures upon awakening (EGTCA). EEG often shows spike-wave discharges. EIG18 is an autosomal dominant disorder manifest as myoclonic seizures in infancy. Although the seizures remit, some patients may have later speech or cognitive impairment (summary by Becker et al., 2017 and Campostrini et al., 2018). For a general phenotypic description and a discussion of genetic heterogeneity of idiopathic generalized epilepsy (IGE), see 600669. [from OMIM]

Clinical features

From HPO
Bradycardia
MedGen UID:
140901
Concept ID:
C0428977
Finding
A slower than normal heart rate (in adults, slower than 60 beats per minute).
Intellectual disability, mild
MedGen UID:
10044
Concept ID:
C0026106
Mental or Behavioral Dysfunction
Mild intellectual disability is defined as an intelligence quotient (IQ) in the range of 50-69.
Delayed speech and language development
MedGen UID:
105318
Concept ID:
C0454644
Finding
A degree of language development that is significantly below the norm for a child of a specified age.
Myoclonic seizure
MedGen UID:
1385980
Concept ID:
C4317123
Sign or Symptom
A myoclonic seizure is a type of motor seizure characterized by 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.

Recent clinical studies

Etiology

Milanovska M, Cvetkovska E, Panov S
Med Glas (Zenica) 2021 Aug 1;18(2):404-409. doi: 10.17392/1367-21. PMID: 34080406

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