A SCN1A – Positive Family with Paroxysmal Events Triggered by Infection and Emotion in Childhood and Basilar-type Migraine in Adulthood

Hintergrund

Background: Mutations in SCN1A genes are known to cause Dravet Syndrome, they are found as well in familial hemiplegic migraine type 3.

Method: We report four family members with paroxysmal events triggered by infection and emotion in infancy and basilar-type migraine in adulthood.

Results: All four family members suffered from paroxysmal events with initial shouting, ascending paresthesia, trembling, loss of consciousness followed by tongue-biting and falls, the events were self-limiting and occurred several time per year. The mother underwent psychiatric and neurologic treatment and had difficulties in school, medical diagnostics did not yield any results. Treatment with CBZ and LTG aggravated. When VPA was stopped during pregnancy the seizures appeared again. The first seizure of the daughter (now six years old) triggered genetic diagnostics, which revealed a heterozygous mutation in the SCN1A gene of mother and daughter (c.886A>G (p.lle296Val). SCN8A and CACNA1A were negative.

Discussion: Four family members suffered from paroxysmal events triggered by infection and emotion which aggravated by CBZ and LTG - a typical finding for SCN1A mutations. The three adult patients later developed basilar-type migraine attacks with speech-, auditory and visual disturbance, dizziness, paresthesias and gait disorder. Because of positive diagnostics we did not start medical treatment of the daughter.