caa a22 4500 445356731 CHVBK 20180317142902.0 cr unu---uuuuu 170323e20110501xx s 000 0 eng 10.1007/s10072-011-0517-4 doi (NATIONALLICENCE)springer-10.1007/s10072-011-0517-4 The genetic features of 24 patients affected by familial and sporadic hemiplegic migraine [Elektronische Daten] [A. Gallanti, V. Cardin, A. Tonelli, G. Bussone, N. Bresolin, C. Mariani, M. Bassi] Familial hemiplegic migraine (FHM) is the only migraine subtype for which a monogenic mode of inheritance, autosomal dominant has been clearly established. It is genetically heterogeneous and at least three different genes exist (CACNA1A, ATP1A2, and SCN1A), the so-called FHM1, FHM2, and FHM3 genes, respectively. Sporadic hemiplegic migraine (SHM) is a disorder, in which some patients may have their pathophysiology identical to FHM, but others, possibly the majority, may have different pathophysiology, probably related to the mechanisms of typical migraine with aura. In our study, we have screened the DNA of 24 patients affected by FHM and SHM. Only in three patients, 2 sporadic and 1 familial cases, we have described genetic mutations, all of them in the ATP1A2 gene. In our opinion, these results demonstrate a more frequent involvement of the ATP1A2 gene not only in the sporadic form, but probably also in the Italian FHM patients without permanent cerebellar signs. Moreover, the absence of CACNA1A, ATP1A2 and SCN1A mutations in the other 12 familial cases suggests the involvement of still unknown genes. Springer-Verlag, 2011 ATP1A2 nationallicence FHM nationallicence SHM nationallicence Gallanti A. Neurological Department, Fondazione IRRCS Ca' Granda Ospedale Maggiore Policlinico, Via Francesco Sforza, 35, Milan, Italy aut Cardin V. Dottorato di Ricerca in Scienze Neurologiche e del Dolore, Università degli Studi di Milano, Milan, Italy aut Tonelli A. Fondazione IRCCS E. Medea, Bosisio Parini, Lecco, Italy aut Bussone G. Fondazione IRCCS Istituto Neurologico C. Besta, Milan, Italy aut Bresolin N. Neurological Department, Fondazione IRRCS Ca' Granda Ospedale Maggiore Policlinico, Via Francesco Sforza, 35, Milan, Italy aut Mariani C. Dottorato di Ricerca in Scienze Neurologiche e del Dolore, Università degli Studi di Milano, Milan, Italy aut Bassi M. Fondazione IRCCS E. Medea, Bosisio Parini, Lecco, Italy aut Neurological Sciences Springer Milan 32(2011-05-01), 141-142 1590-1874 32<141 2011 32 10072 https://doi.org/10.1007/s10072-011-0517-4 text/html Onlinezugriff via DOI 1 brief-communication jats NATIONALLICENCE 856 40 https://doi.org/10.1007/s10072-011-0517-4 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Gallanti A. Neurological Department, Fondazione IRRCS Ca' Granda Ospedale Maggiore Policlinico, Via Francesco Sforza, 35, Milan, Italy aut NATIONALLICENCE 700 1- Cardin V. Dottorato di Ricerca in Scienze Neurologiche e del Dolore, Università degli Studi di Milano, Milan, Italy aut NATIONALLICENCE 700 1- Tonelli A. Fondazione IRCCS E. Medea, Bosisio Parini, Lecco, Italy aut NATIONALLICENCE 700 1- Bussone G. Fondazione IRCCS Istituto Neurologico C. Besta, Milan, Italy aut NATIONALLICENCE 700 1- Bresolin N. Neurological Department, Fondazione IRRCS Ca' Granda Ospedale Maggiore Policlinico, Via Francesco Sforza, 35, Milan, Italy aut NATIONALLICENCE 700 1- Mariani C. Dottorato di Ricerca in Scienze Neurologiche e del Dolore, Università degli Studi di Milano, Milan, Italy aut NATIONALLICENCE 700 1- Bassi M. Fondazione IRCCS E. Medea, Bosisio Parini, Lecco, Italy aut NATIONALLICENCE 773 0- Neurological Sciences Springer Milan 32(2011-05-01), 141-142 1590-1874 32<141 2011 32 10072 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer