Two distinct phenotypes, hemiplegic migraine and episodic Ataxia type 2, caused by a novel common CACNA1A variant

被引：0
|
作者：
Rosaria Nardello
Giorgia Plicato
Giuseppe Donato Mangano
Elena Gennaro
Salvatore Mangano
Filippo Brighina
Vincenzo Raieli
Antonina Fontana
机构：
[1] Specialities “G. D’Alessandro,Department of Health Promotion, Mother and Child Care, Internal Medicine and Medical Specialities
[2] ” University of Palermo,UOC Laboratorio di Genetica Umana
[3] IRCCS Istituto Giannina Gaslini,Department of Experimental Biomedicine and Clinical Neurosciences
[4] University of Palermo,Child Neuropsychiatry Department
[5] Di Cristina - ARNAS Civico Hospital,undefined
来源：
BMC Neurology | / 20卷
关键词：
gene; Familial hemiplegic migraine type 1; Episodic ataxia type2; Cognitive affective syndrome, neuropsychology.;
D O I：
暂无
中图分类号：
学科分类号：
摘要：
引用
收藏
相关论文
共 50 条
  • [41] Migraine and ataxia: Episodic and chronic features of neuronal CACNA1A channelopathies.
    Frants, RR
    Terwindt, GM
    Ophoff, RA
    Vergouwe, MN
    Haan, J
    Sandkuijl, LA
    Ferrari, MD
    JOURNAL OF NEUROCHEMISTRY, 1999, 73 : S2 - S2
  • [42] Childhood epilepsy, familial hemiplegic migraine, cerebellar ataxia, and a new CACNA1A mutation
    Kors, EE
    Melberg, A
    Vanmolkot, KRJ
    Kumlien, E
    Haan, J
    Raininko, R
    Flink, R
    Ginjaar, HB
    Frants, RR
    Ferrari, MD
    van den Maagdenberg, AMJM
    NEUROLOGY, 2004, 63 (06) : 1136 - 1136
  • [43] Efficacy of levetiracetam in patients with episodic ataxia type 2 caused by CACNA1A mutation: three case reports
    Na, Seunghee
    Kim, Taewon
    NEUROLOGICAL SCIENCES, 2021, 42 (09) : 3897 - 3899
  • [44] Identification of novel and recurrent CACNA1A gene mutations in fifteen patients with episodic ataxia type 2
    Mantuano, Elide
    Romano, Silvia
    Veneziano, Liana
    Gellera, Cinzia
    Castellotti, Barbara
    Caimi, Sara
    Testa, Daniela
    Estienne, Margherita
    Zorzi, Giovanna
    Bugiani, Marianna
    Rajabally, Yusuf A.
    Garcia Barcina, Maria J.
    Servidei, Serena
    Panico, Aurora
    Frontali, Marina
    Mariotti, Caterina
    JOURNAL OF THE NEUROLOGICAL SCIENCES, 2010, 291 (1-2) : 30 - 36
  • [45] Efficacy of levetiracetam in patients with episodic ataxia type 2 caused by CACNA1A mutation: three case reports
    Seunghee Na
    Taewon Kim
    Neurological Sciences, 2021, 42 : 3897 - 3899
  • [46] Early Onset, Acetazolamide-Responsive, Non-Episodic Ataxia, Familial Hemiplegic Migraine and a Missense Mutation in CACNA1A
    Economos, Alexis
    Estrella, Elicia
    Darras, Basil
    ANNALS OF NEUROLOGY, 2015, 78 : S103 - S103
  • [47] Newly characterised 5′ and 3′ regions of CACNA1A gene harbour mutations associated with Familial Hemiplegic Migraine and Episodic Ataxia
    Veneziano, Liana
    Guida, Serena
    Mantuano, Elide
    Bernard, Paola
    Tarantino, Patrizia
    Boccone, Loredana
    Hisama, Fuki M.
    Carrera, Paola
    Jodice, Carla
    Frontali, Marina
    JOURNAL OF THE NEUROLOGICAL SCIENCES, 2009, 276 (1-2) : 31 - 37
  • [48] Identification of a novel CACNA1A mutation in a Taiwanese family with episodic ataxia
    Lin, W. Y.
    Huang, C. L.
    Lia, S. C.
    Yeh, T. H.
    Lu, C. S.
    MOVEMENT DISORDERS, 2013, 28 : S251 - S251
  • [49] A novel nonsense mutation in CACNA1A causes episodic ataxia and hemiplegia
    Jen, J
    Yue, Q
    Nelson, SF
    Yu, H
    Litt, M
    Nutt, J
    Baloh, RW
    NEUROLOGY, 1999, 53 (01) : 34 - 37
  • [50] P016. Congenital ataxia, hemiplegic migraine due to a novel mutation of CACNA1A: a case report
    Roberto Frusciante
    Alessandro Capuano
    Lorena Travaglini
    Ginevra Zanni
    Federico Vigevano
    Enrico Bertini
    Massimiliano Valeriani
    The Journal of Headache and Pain, 2015, 16
12345