TY - JOUR
T1 - A novel ATP1A2 gene mutation in familial hemiplegic migraine and epilepsy
AU - Costa, Cinzia
AU - Prontera, Paolo
AU - Sarchielli, Paola
AU - Tonelli, Alessandra
AU - Bassi, Maria Teresa
AU - Cupini, Letizia Maria
AU - Caproni, Stefano
AU - Siliquini, Sabrina
AU - Donti, Emilio
AU - Calabresi, Paolo
PY - 2014/1
Y1 - 2014/1
N2 - Background: Familial hemiplegic migraine (FHM) is a rare autosomal dominant migraine subtype, characterized by fully reversible motor weakness as a specific symptom of aura. Mutations in the ion transportation coding genes CACNA1A, ATP1A2 and SCN1A are responsible for the FHM phenotype. Moreover, some mutations in ATP1A2 or SCN1A also may lead to epilepsy. Case: Here we report on a three-generation family with five patients having a novel ATP1A2 mutation on exon 19, causing guanine-to-adenine substitution (c.2620G>A, p.Gly874Ser) that co-segregated in the five living relatives with migraine, four of whom had hemiplegic migraine. Moreover, three patients presented with epilepsy, one of whom had generalized epilepsy with febrile seizures plus (GEFS+). Conclusions: The present study provides further evidence on the involvement of ATP1A2 mutations in both migraine and epilepsy, underlying the relevance of genetic analysis in families with a comorbidity of both disorders.
AB - Background: Familial hemiplegic migraine (FHM) is a rare autosomal dominant migraine subtype, characterized by fully reversible motor weakness as a specific symptom of aura. Mutations in the ion transportation coding genes CACNA1A, ATP1A2 and SCN1A are responsible for the FHM phenotype. Moreover, some mutations in ATP1A2 or SCN1A also may lead to epilepsy. Case: Here we report on a three-generation family with five patients having a novel ATP1A2 mutation on exon 19, causing guanine-to-adenine substitution (c.2620G>A, p.Gly874Ser) that co-segregated in the five living relatives with migraine, four of whom had hemiplegic migraine. Moreover, three patients presented with epilepsy, one of whom had generalized epilepsy with febrile seizures plus (GEFS+). Conclusions: The present study provides further evidence on the involvement of ATP1A2 mutations in both migraine and epilepsy, underlying the relevance of genetic analysis in families with a comorbidity of both disorders.
KW - ATP1A2 gene
KW - epilepsy
KW - FHM2
KW - GEFS+
KW - migraine
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U2 - 10.1177/0333102413498941
DO - 10.1177/0333102413498941
M3 - Article
C2 - 23918834
AN - SCOPUS:84890835702
VL - 34
SP - 68
EP - 72
JO - Cephalalgia
JF - Cephalalgia
SN - 0333-1024
IS - 1
ER -