Abstracts

Rationale: ATP1A2 mutations are associated with autosomal dominant familial hemiplegic migraines type II, febrile seizures, non-febrile seizures and intellectual disabilities. It was noticed that family members with same mutations have different clinical phenotypes.Methods: We present here two pediatric patients with mutations in ATP1A2 and with different clinical presentations.Results: First patient is a 7 year old male with past medical history of febrile seizures and Landau-Kleffner syndrome, who presented with first episode of hemiplegic migraine (severe headache, right sided hemiparesis and aphasia). There is strong family history of migraine headaches in mother and maternal grandmother. He was found to have an ATP1A2 mutation causing guanine-to-adenine substitution (c.2143G>A, p.Gly715Arg). The second patient is a 15 year old male with epilepsy since 11 years of age and dyslexia. His mother has hemiplegic migraines and his maternal grandmother and 2 brothers have migraine headaches. He was found to have an ATP1A2 mutation causing cytosine-to-guanine substitution (c.1859C>G, p.Thr620Arg).Conclusions: The present study provides further evidence on the wide clinical phenotype caused by ATP1A2 mutations. Given the fact that hemiplegic migraines can occur later in life, we strongly recommend genetic analysis in pediatric epilepsy patients with strong family history of migraines, especially if there is history of hemiplegic migraines.