Diseases of the nervous system
Episodic and paroxysmal disorders
Autosomal dominant
1p36.33
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). 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. [From OMIM]
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 613060.1 | Saudi Arabia | Male | No | Yes | Seizure; Global developmental delay Seizure; Global developmental delay  | NM_000815.5:c.875C>T | Homozygous | Monies et al. 2017 | Patient is homozygou... | |
| 613060.2 | Saudi Arabia | Male | Seizure; Motor delay; Delayed speech and... Seizure; Motor delay; Delayed speech and language development; Hypotonia; Muscle weakness; Abnormality of movement; Microcephaly; Visual impairment | NM_000815.5:c.875C>T | Homozygous | Monies et al. 2017 | Patient is homozygou... |