Disease Information for Benign Infantile Seizures, familal [2q23-q24.3]

SEIZURES, BENIGN FAMILIAL NEONATAL-INFANTILE; Benign familial neonatal-infantile seizures is an autosomal dominant disorder in which afebrile seizures occur in clusters during the first year of life, without neurologic sequelae; It is distinguished from benign neonatal epilepsy and benign familial infantile convulsions by an intermediate age at onset. Onset at 5 days, the proband developed seizures consisting of eye-blinking and lip-smacking or rhythmic twitching of the left arm and leg with the head turned to the right; A few subsequent seizures occurred, but all ceased after 6 months of age; Age at onset in other affected family members ranged from 2 days to 3; 5 months, but ceased in all patients by age 7 months; Seizures occurred in clusters, usually 5 to 15, over a period of hours to a couple of days after onset ;None of the patients developed a subsequent seizure disorder, and all had normal intellectual and motor development;The authors suggested the term "benign familial neonatal-infantile seizures" to describe the disorder. This is an autosomal dominant inheritance of benign familial neonatal seizures; None of the patients had seizures after the first 10 months of life, with long-term follow-up ranging from 10 months to 56 years; Development was normal, and antiepileptic drug therapy did not appear to modify either seizure recurrence or long-term outcome; individuals had onset at 3 to 3, 5 months, later than that typical for BFNC, which has onset within the first week of life.

Noting that the age at onset in benign familial infantile convulsions (BFIC) is typically between 4 and 8 months, the authors concluded that the age at onset in this family was intermediate between that seen in BFNC and BFIC; termed BFNC and BFIC "benign familial convulsions of early life”; BFNC1 and BFNC2 chromosome 20 then 8;but 2q24 locus found; Clinical Synopsis: Seizures, partial, afebrile; Secondary generalization may occur; Seizures, generalized, afebrile; Seizures occur in clusters; Seizures often begin with head and eye deviation; Normal psychomotor development ; Normal interictal EEG; Onset ranges from 2 days to 7 months (most at 2-3 months); Seizures are easily controlled by medications; Spontaneous resolution by 12 months of age; (OMIM reference)

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