Spontaneous mutation in CACNL1A4 caused acetazolamide-responsive episodic ataxia

被引:0
|
作者
Baloh, RW
Yue, Q
Jen, J
Nelson, SF
机构
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
引用
收藏
页码:T294 / T294
页数:1
相关论文
共 50 条
  • [31] Genotype-phenotype correlation in episodic ataxia patients with novel mutations in CACNL1A4.
    Yue, Q
    Nelson, SF
    Jen, JC
    Thwe, MM
    Baloh, RW
    AMERICAN JOURNAL OF HUMAN GENETICS, 1997, 61 (04) : A353 - A353
  • [32] Mutations in the Cacnl1a4 calcium channel gene are associated with seizures, cerebellar degeneration, and ataxia in tottering and leaner mutant mice
    Doyle, J
    Ren, XJ
    Lennon, G
    Stubbs, L
    MAMMALIAN GENOME, 1997, 8 (02) : 113 - 120
  • [33] MAPPING THE GENE FOR ACETAZOLAMIDE-RESPONSIVE HEREDITARY PAROXYSMAL CEREBELLAR-ATAXIA TO CHROMOSOME-19P
    BULMAN, DE
    VONBREDERLOW, B
    HAHN, AF
    KOOPMAN, WJ
    EBERS, GC
    NEUROLOGY, 1995, 45 (04) : A421 - A421
  • [34] Acetazolamide-responsive myotonia with a novel Ile239Thr mutation in SCN4A gene: a case report
    Yadav, Jashpal
    Barnwal, Ritesh
    Mandal, Sujit Kumar
    Prajapati, Bina
    ANNALS OF MEDICINE AND SURGERY, 2024, 86 (02): : 1191 - 1195
  • [35] A novel mutation in CACNA1A gene in a Saudi female with episodic ataxia type 2 with no response to acetazolamide or 4-aminopyridine
    Algahtani, Hussein
    Shirah, Bader
    Algahtani, Raghad
    Al-Qahtani, Mohammad H.
    Abdulkareem, Angham Abdulrahman
    Naseer, Muhammad Imran
    INTRACTABLE & RARE DISEASES RESEARCH, 2019, 8 (01) : 67 - 71
  • [36] Characterization of mutations within the CACNL1A4 gene in Italian families with Familial Hemiplegic Migraine (FHM)
    Carrera, P
    Stenirri, S
    Piatti, M
    Ferrari, M
    Righetti, PG
    Mauri, D
    Curcio, M
    Gelfi, C
    EUROPEAN JOURNAL OF HUMAN GENETICS, 1998, 6 : 136 - 136
  • [37] SLC1A3 variant associated with hemiplegic migraine and acetazolamide-responsive MRS changes
    Paucar, Martin
    Granberg, Tobias
    Lagerstedt-Robinson, Kristina
    Waldenlind, Elisabet
    Petersson, Sven
    Nordin, Love
    Svenningsson, Per
    NEUROLOGY-GENETICS, 2020, 6 (04)
  • [38] A Japanese family with spinocerebellar ataxia type 6 which includes three individuals homozygous for an expanded CAG repeat in the SCA6/CACNL1A4 gene
    Takiyama, Y
    Sakoe, K
    Namekawa, M
    Soutome, M
    Esumi, E
    Ogawa, T
    Ishikawa, K
    Mizusawa, H
    Nakano, I
    Nishizawa, M
    JOURNAL OF THE NEUROLOGICAL SCIENCES, 1998, 158 (02) : 141 - 147
  • [39] Effectiveness of levetiracetam in an acetazolamide-unresponsive patient with episodic ataxia type 2 by a novel CACNA1A nonsense mutation
    Lee, H.
    Jang, D. -H.
    Jang, J. -H.
    Kim, T.
    EUROPEAN JOURNAL OF NEUROLOGY, 2017, 24 (07) : E43 - E44
  • [40] Episodic psychosis, ataxia, motor neuropathy caused by a novel mutation in ADPRHL2
    Durmus, Hacer
    Hashemolhosseini, Said
    Ceylaner, Serdar
    Parman, Yesim
    JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM, 2020, 25 (04) : 558 - 558