CERVICAL DYSTONIA WITH CEREBELLAR ATAXIA IN KCNA1 MUTATION: A PHENOTYPIC EXPANSION

被引:0
|
作者
Mahale, R. [1 ]
Jayanth, S. [1 ]
Dutta, D. [1 ]
Padmanabha, H. [1 ]
Mailankody, P. [1 ]
机构
[1] NIMHANS, Bangalore, India
关键词
D O I
暂无
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
P 174
引用
收藏
页码:62 / 62
页数:1
相关论文
共 50 条
  • [1] Cervical Dystonia with Cerebellar Ataxia in KCNA1 Mutation: A Phenotypic Expansion
    Mahale, Rohan R.
    Jayanth, S. S.
    Dutta, Debayan
    Hansashree, S. G.
    Padmanabha, Hansashree
    Mailankody, Pooja
    ANNALS OF INDIAN ACADEMY OF NEUROLOGY, 2022, 25 (05) : 942 - +
  • [2] A novel KCNA1 mutation in a family with episodic ataxia and malignant hyperthermia
    Tiago A. Mestre
    Andreea Manole
    Heather MacDonald
    Sheila Riazi
    Natalia Kraeva
    Michael G. Hanna
    Anthony E. Lang
    Roope Männikkö
    Grace Yoon
    neurogenetics, 2016, 17 : 245 - 249
  • [3] Novel mutation in KCNA1 causes episodic ataxia with paroxysmal dyspnea
    Shook, Steven J.
    Hafsa, Mamsa
    Jen, Joanna C.
    Baloh, Robert W.
    Zhou, Lan
    MUSCLE & NERVE, 2008, 37 (03) : 399 - 402
  • [4] A NOVEL KCNA1 MUTATION CAUSING EPISODIC ATAXIA TYPE I
    Lassche, Saskia
    Lainez, Sergio
    Bloem, Bastiaan R.
    van de Warrenburg, Bart P. C.
    Hofmeijer, Jeannette
    Lemmink, Henny H.
    Hoenderop, Joost G. J.
    Bindels, Rene J. M.
    Drost, Gea
    MUSCLE & NERVE, 2014, 50 (02) : 289 - 291
  • [5] A novel KCNA1 mutation in a family with episodic ataxia and malignant hyperthermia
    Mestre, Tiago A.
    Manole, Andreea
    MacDonald, Heather
    Riazi, Sheila
    Kraeva, Natalia
    Hanna, Michael G.
    Lang, Anthony E.
    Maennikkoe, Roope
    Yoon, Grace
    NEUROGENETICS, 2016, 17 (04) : 245 - 249
  • [6] A novel KCNA1 mutation in a large family with Episodic Ataxia type 1
    Touraine, RL
    Combes, A
    Prieur, F
    de Freminville, B
    Lauras, B
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2002, 10 : 262 - 262
  • [7] Downbeat Nystagmus in Episodic Ataxia Type 1 Associated with a Novel KCNA1 Mutation
    Jorge, Andre
    Melancia, Diana
    Figueiredo, Carlos
    Galego, Orlando
    Oliveira, Jorge
    Martins, Ana I.
    Lemos, Joao
    MOVEMENT DISORDERS, 2022, 37 (02) : 430 - 432
  • [8] A Novel KCNA1 Mutation in an Episodic Ataxia Type 1 Patient with Asterixis and Falls
    Lee, Geum Bong
    Kim, Ga Yeon
    Jeong, In Hwa
    Kim, Namhee
    Kim, Jae Woo
    JOURNAL OF CLINICAL NEUROLOGY, 2021, 17 (02): : 333 - 335
  • [9] A Novel KCNA1 Mutation Associated with Global Delay and Persistent Cerebellar Dysfunction
    Demos, Michelle K.
    Macri, Vincenzo
    Farrell, Kevin
    Nelson, Tanya N.
    Chapman, Kristine
    Accili, Eric
    Armstrong, Linlea
    MOVEMENT DISORDERS, 2009, 24 (05) : 778 - 782
  • [10] Chronic neuromyotonia as a phenotypic variation associated with a new mutation in the KCNA1 gene
    Poujois, Aurelia
    Antoine, Jean-Christophe
    Combes, Agnes
    Touraine, Renaud Laurian
    JOURNAL OF NEUROLOGY, 2006, 253 (07) : 957 - 959