Familial hemiplegic migraine (FHM) is a rare subtype of migraine with aura with an autosomal dominant pattern of inheritance. Six FHM families underwent extensive clinical and genetic investigation. The authors identified a novel ATP1A2 mutation (E700K) in three patients from one family. In the patients, attacks were triggered by several factors including minor head trauma. In one subject a 3-day coma developed after a cerebral angiography. Overall, the phenotype of the patients closely resembles that of previously reported cases of FHM type II. The E700K variant might be regarded as the cause of the disease in this family, but this was not tested functionally.
A novel ATP1A2 mutation in a family with FHM type II / Pierelli, Francesco; G. S., Grieco; Pauri, Flavia; Pirro, Cristina; Fiermonte, Giancarlo; A., Ambrosini; A., Costa; M. G., Buzzi; M., Valoppi; C., Caltagirone; Nappi, Giuseppe; F. M., Santorelli. - In: CEPHALALGIA. - ISSN 0333-1024. - STAMPA. - 26:3(2006), pp. 324-328. [10.1111/j.1468-2982.2006.01002.x]
A novel ATP1A2 mutation in a family with FHM type II
PIERELLI, Francesco;PAURI, FLAVIA;PIRRO, Cristina;FIERMONTE, Giancarlo;NAPPI, Giuseppe;
2006
Abstract
Familial hemiplegic migraine (FHM) is a rare subtype of migraine with aura with an autosomal dominant pattern of inheritance. Six FHM families underwent extensive clinical and genetic investigation. The authors identified a novel ATP1A2 mutation (E700K) in three patients from one family. In the patients, attacks were triggered by several factors including minor head trauma. In one subject a 3-day coma developed after a cerebral angiography. Overall, the phenotype of the patients closely resembles that of previously reported cases of FHM type II. The E700K variant might be regarded as the cause of the disease in this family, but this was not tested functionally.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
