GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2

General Information (adopted from Orphanet):

Synonyms, Signs: GEFSP2
GEFS+2 FEBRILE SEIZURES, FAMILIAL, 3A, INCLUDED
GEFS+, TYPE 2
FEB3A, INCLUDED
Number of Symptoms 14
OrphanetNr:
OMIM Id: 604403
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0002123) Generalized myoclonic seizures 62 / 7739
2
(HPO:0010818) Generalized tonic seizures 8 / 7739
3
(HPO:0006813) Hemiclonic seizures 3 / 7739
4
(HPO:0007359) Focal seizures 27 / 7739
5
(HPO:0002373) Febrile seizures 37 / 7739
6
(HPO:0010819) Atonic seizures 18 / 7739
7
(HPO:0002069) Generalized tonic-clonic seizures 96 / 7739
8
(HPO:0002121) Absence seizures 62 / 7739
9
(OMIM) Seizures recur in 33% of patients 6 / 7739
10
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
11
(HPO:0003828) Variable expressivity 130 / 7739
12
(OMIM) Patients show normal psychomotor development 7 / 7739
13
(HPO:0011463) Childhood onset 65 / 7739
14
(OMIM) Between 2 and 7% of children will develop afebrile seizure disorders later in life 6 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Mutations in the SCN1A gene cause a spectrum of seizure disorders, ranging from early-onset isolated febrile seizures to generalized epilepsy with febrile seizures plus, type 2, which represents a more severe phenotype. Patients with isolated febrile seizures usually ...
Clinical Description OMIM - GEFS+ Type 2

Baulac et al. (1999) studied a family in which affected individuals in 3 successive generations presented clinical similarities with families with GEFS+. Patients expressed a variable phenotype combining febrile seizures, generalized seizures ...

Molecular genetics OMIM Escayg et al. (2000) demonstrated that the 2 GEFS+ families reported by Baulac et al. (1999) and Moulard et al. (1999) each carried a different heterozygous mutation in the SCN1A gene (R1648H, 182389.0001 and T875M, 182389.0002, respectively). ...