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
  • [21] Two novel CACNA1A gene mutations associated with episodic ataxia type 2 and interictal dystonia
    Spacey, SD
    Materek, LA
    Szczygielski, BI
    Bird, TD
    ARCHIVES OF NEUROLOGY, 2005, 62 (02) : 314 - 316
  • [22] Two sporadic cases of episodic ataxia type 2 with CACNA1A gene mutations
    Shimazaki, H.
    Mashiko, T.
    Kim, Y.
    Ozawa, T.
    Koide, R.
    Matsuura, T.
    Fujimoto, S.
    JOURNAL OF THE NEUROLOGICAL SCIENCES, 2017, 381 : 660 - 660
  • [23] A sleep modulated Channelopathy: a novel CACNA1A pathogenic variant identified in episodic Ataxia type 2 and a potential link to sleep alleviated migraine
    Abhimanyu S. Ahuja
    Todd D. Rozen
    Paldeep S. Atwal
    BMC Neurology, 19
  • [24] A sleep modulated Channelopathy: a novel CACNA1A pathogenic variant identified in episodic Ataxia type 2 and a potential link to sleep alleviated migraine
    Ahuja, Abhimanyu S.
    Rozen, Todd D.
    Atwal, Paldeep S.
    BMC NEUROLOGY, 2019, 19 (01)
  • [25] Novel splice site CACNA1A mutation causing episodic ataxia type 2
    Kaunisto, MA
    Harno, H
    Kallela, M
    Somer, H
    Sallinen, R
    Hämäläinen, E
    Miettinen, PJ
    Vesa, J
    Orpana, A
    Palotie, A
    Färkkilä, M
    Wessman, M
    NEUROGENETICS, 2004, 5 (01) : 69 - 73
  • [26] Novel CACNA1A gene mutation in a Taiwan family with episodic ataxia type 2
    Chen, K. F.
    Tsai, C. H.
    Wu, D. C.
    MOVEMENT DISORDERS, 2018, 33 : S298 - S298
  • [27] Novel splice site CACNA1A mutation causing episodic ataxia type 2
    M. A. Kaunisto
    H. Harno
    M. Kallela
    H. Somer
    R. Sallinen
    E. Hämäläinen
    P.J. Miettinen
    J. Vesa
    A. Orpana
    A. Palotie
    M. Färkkilä
    M. Wessman
    Neurogenetics, 2004, 5 : 69 - 73
  • [28] A novel mutation of CACNA1A gene in episodic ataxia type 2 family in Korea
    Shin, Kyong Jin
    Park, Jinse
    Oh, Seung Hwan
    Jun, Kyung Ran
    Park, Kang Min
    Ha, Sam Yeol
    EunKim, Sung
    Jang, Wooyoung
    Kim, Ji Sun
    Youn, Jinyoung
    Oh, Eungseok
    Kim, Hee-Tae
    NEUROLOGY ASIA, 2014, 19 (04) : 363 - 366
  • [29] A novel CACNA1A R2201W variant in a woman with hemiplegic migraine
    Giacomo Baso
    Francesco Mele
    Elda Del Giudice
    Alberta Leon
    Leonardo Pantoni
    Neurological Sciences, 2023, 44 : 3299 - 3302
  • [30] A novel CACNA1A R2201W variant in a woman with hemiplegic migraine
    Baso, Giacomo
    Mele, Francesco
    Del Giudice, Elda
    Leon, Alberta
    Pantoni, Leonardo
    NEUROLOGICAL SCIENCES, 2023, 44 (09) : 3299 - 3302
12345