Generalised epilepsy with febrile seizures plus (GEFS+)
Evidence-based neurology checklist on generalised epilepsy with febrile seizures plus (gefs+): Genetic transmission This is a subset of familial febrile seizures It is autosomal dominant with incomplete penetrance The mutation may arise de novo There are recognised mutations in 10% of families…
Genetic transmission
- This is a subset of familial febrile seizures
- It is autosomal dominant with incomplete penetrance
- The mutation may arise de novo
- There are recognised mutations in 10% of families
Genetic mutations
Genetic subtypes
Phenotypes
Clinical features
Possible associated features
Treatment
Synonym
References
- Scheffer IE, Berkovic SF. Generalized epilepsy with febrile seizures plus: a genetic disorder with heterogeneous clinical phenotypes. Brain 1997; 120:479-490.
- Thomas RH, Johnston JA, Hammond CL, Bagguley S, White C, Smith PE, Rees MI. Genetic epilepsy with febrile seizures plus: definite and borderline phenotypes. JNNP 2012; 83:336-338.
- Myers KA, Burgess R, Afawi Z, et al. De novo SCNIA pathogenic variants in the GEFS+ spectrum: not always a familial syndrome. Epilepsia 2017; 58:e26-e30.
- Epifanio R, Zanotta N, Giorda R, Bardoni A, Zucca C. Novel epilepsy phenotype associated to a known SCN8A mutation. Seizure 2019; 67:15-17.
- Bonanni P, Malcarne M, Moro F, et al. Generalized epilepsy with febrile seizures plus (GEFS +): clinical spectrum in seven Italian families unrelated to SCN1a, SCN1B, and GABRG2 gene mutations. Epilepsia 2004; 45:149-158.
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