title: A novel de novo nonsense mutation in ATP1A2 associated with sporadic hemiplegic migraine and epileptic seizures.
abstract: Familial hemiplegic migraine (FHM) is a severe dominant form of migraine with aura associated with transient hemiparesis. Several other neurological signs and symptoms can be associated with FHM such as cerebellar abnormalities, cerebral edema and coma after minor head trauma, epileptic seizures and mental retardation. The sporadic form of hemiplegic migraine named SHM, presents with identical clinical symptoms. Here we report a case of a young hemiplegic migraine patient, 11 years old, who had the first hemiplegic attack at the age of 10 years. This patient has a clinical history of epileptic seizures in the childhood successfully controlled with drug therapy. No familiarity for any type of migraine or seizures can be observed within the paternal or maternal line. The patient who can therefore be considered a sporadic case, carries a novel de novo nonsense mutation p.Tyr1009X in the ATP1A2 gene (FHM2), leading to a truncated alpha-2 subunit of the Na+/K+-ATPase pump thus lacking the last 11 amino acids. The novel mutation identified confirms the role of FHM2 gene in forms of hemiplegic migraine associated with epilepsy with both familial and sporadic occurrence, and expands the spectrum of mutations related to these forms of the disease.
authors.affiliation: Dino Ferrari Center, IRCCS Ospedale Maggiore Policlinico, Mangiagalli e Regina Elena Foundation, Dept. of Neurological Sciences, University of Milan, 20129 Milan, Italy.
authors.forename: Andrea
authors.initials: A
authors.lastname: Gallanti
authors.forename: Alessandra
authors.initials: A
authors.lastname: Tonelli
authors.forename: Veronica
authors.initials: V
authors.lastname: Cardin
authors.forename: Gennaro
authors.initials: G
authors.lastname: Bussone
authors.forename: Nereo
authors.initials: N
authors.lastname: Bresolin
authors.forename: Maria Teresa
authors.initials: MT
authors.lastname: Bassi
mesh_terms: D002648:Child; D018389:Codon, Nonsense; D004252:DNA Mutational Analysis; D004827:Epilepsy / Q000150:complications / Q000235:genetics*; D005260:Female; D006801:Humans; D020325:Migraine with Aura / Q000150:complications / Q000235:genetics*; D000254:Sodium-Potassium-Exchanging ATPase / Q000235:genetics*
chemical_list: D018389:Codon, Nonsense; C498531:ATP1A2 protein, human; D000254:Sodium-Potassium-Exchanging ATPase