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Papers of the Week

Papers: 24 Jul 2021 - 30 Jul 2021

Human Studies


2021 Jul 28

J Headache Pain



CACNA1A-p.Thr501Met mutation associated with familial hemiplegic migraine: a family report.


Romozzi M, Primiano G, Rollo E, Travaglini L, Calabresi P, Servidei S, Vollono C
J Headache Pain. 2021 Jul 28; 22(1):85.
PMID: 34320921.


Hemiplegic migraine (HM) is a rare form of migraine characterized by the presence of a motor and other types of aura. HM can be sporadic or familial. Familial hemiplegic migraine (FHM) is an autosomal dominant disorder, classified into 3 subtypes, based on the gene involved (CACNA1A in FHM1, ATP1A2 in FHM2 and SCN1A in FHM3). The clinical presentation is highly heterogeneous and some attacks may be severe. We report the clinical characteristics and genetic analysis of 12 patients belonging to a family with CACNA1A-p.Thr501Met gene mutation.