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

More general terms

• epilepsy

Additional terms

• benign familial infantile convulsions

Database

• OMIM: https://mirror.omim.org/entry/121200
• OMIM: https://mirror.omim.org/entry/121201