Abstracts

Rationale: The associations between epilepsy and migraine are complex and only rare cases have been reported. Here, we describe a patient with FHM linked to a mutation in the CACNA1A gene, ataxia and epilepsy. Methods: This is a case report of the patient who was seen at Jefferson Comprehensive Epilesy Center and Jefferson Headache Center for her headaches. Genetic test for CACNA1A gene mutation for performed by ATENA laboratories. Results: The patient was a 37 year-old woman. At the age of four years, she had a head trauma and later she developed seizures. Seizures spontaneously resolved at age seven. She came off the AEDs and did well until age 12, when she started to experience episodes of right or left hemibody weakness and paresis which lasted 15 to 45 minutes and were followed by a severe throbbing headache contralateral to the weakness. About once per year, when the above-mentioned symptoms did not resolve in a few hours, the headache was followed by a prolonged period of aphasia, confusion, visual field deficit and in few occasions well documented generalized tonic-clonic seizures. She did not have sporadic seizures unrelated to FHM attacks as an adult. Between attacks physical examination showed ataxia and positive cerebellar signs, left sided clumsiness without sensory impairment and cognitive impairment. A brain MRI showed mild cerebellar atrophy. EEG showed right mid-temporal seizure and partial SE at the time of last admission. Interictal EEG showed focal polymorphic delta activity in the right hemisphere with absence of posterior dominant rhythm on that side. A genetic study showed a missense mutation with C/T substitution at the nucleotide position 653, codon position 218, on chromosome 19p, which resulted in change in one amino acid from serine to leucine. This DNA sequence variant in the CACNA1A gene has previously been reported in association with FHM type 1.Conclusions: Epilepsy, cerebellar signs and FHM linked to CACNA1A gene is a poorly described syndrome and has not been reported elsewhere except in only two patients within the family in one study. Our patient besides sporadic seizures during her childhood had repeated episodes of status epilepticus complicating the prolonged FHM attacks since her adolescence, which makes this case the only case with triad of epilepsy, cerebellar signs and FHM with recurrent attacks of prolonged impaired consensuses and status epilepticus linked to mutation in CACNA1A gene. We propose a syndrome consisting of a triad of cerebellar ataxia, FHM, and epilepsy, which is related to the mutations in CACNA1A gene. We also suggest that patients with the triad of seizures, ataxia, and alternating transient hemiplegia with headaches, should be genetically tested for FHM even if the etiology for any of these manifestations in isolation seems to be obvious. Aggressive treatment of FHM attacks in these patients could prevent status epilepticus.