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benign familial neonatal epilepsy
Genetics:
- associated with defects in KCNQ2 (type 1)
- associated with defects in KCNQ3 (type 2)
Clinical manifestations:
- clusters of afebrile seizures occurring in the first days of life
- most patients have spontaneous remission by 12 months of age & show normal psychomotor development.
- rare cases manifest an atypical severe phenotype associated with epileptic encephalopathy & psychomotor retardation
- in some patients, neonatal convulsions are followed later in life by myokymia
- some patients may have isolated myokymia
Differential diagnosis:
- distinguished from benign familial infantile convulsions by an earlier age at onset
Related
benign familial infantile convulsions
General
epilepsy
Database Correlations
OMIM correlations
References
OMIM :accession 121200