GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 1

General Information (adopted from Orphanet):

Synonyms, Signs: GEFSP1
GEFS+, TYPE 1
GEFS+1
Number of Symptoms 6
OrphanetNr:
OMIM Id: 604233
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0002069) Generalized tonic-clonic seizures 96 / 7739
2
(HPO:0010819) Atonic seizures 18 / 7739
3
(HPO:0001250) Seizures 1245 / 7739
4
(HPO:0002373) Febrile seizures 37 / 7739
5
(HPO:0002121) Absence seizures 62 / 7739
6
(OMIM) Myotonic seizures 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Scheffer and Berkovic (1997) and Singh et al. (1999) described a clinical subset of febrile seizures, termed 'generalized epilepsy with febrile seizures plus' (GEFS+). Classic febrile seizures (see, e.g., FEB1, 121210) affect approximately 3% of children under 6 ...
Clinical Description OMIM Scheffer and Berkovic (1997) reported a large multigenerational family from Tasmania with early childhood onset of febrile seizures as well as febrile seizures occurring beyond age 6 years and development of afebrile seizures, including generalized tonic-clonic seizures (GTCS), ...
Molecular genetics OMIM Wallace et al. (1998) found linkage to 19q13.1 in a large GEFS+ family and identified a heterozygous mutation in the voltage-gated sodium channel beta-1 subunit gene, SCN1B (C121W; 600235.0001). Their observations developed further the theme that idiopathic epilepsies ...