Severe mixed sleep apnea in a patient with epilepsy and gene mutation EEFIA2

被引：0
|
作者：
Gupta, D.
Galion, A.
机构：
来源：
ANNALS OF NEUROLOGY | 2023年 / 94卷
关键词：
Sleep; Epilepsy; Neurogenetics;
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：
267
引用
收藏
页码：S124 / S125
页数：2
相关论文
共 29 条
  • [1] A nonsense mutation of the sodium channel gene SCN2A in a patient with intractable epilepsy and mental decline
    Kamiya, K
    Kaneda, M
    Sugawara, T
    Mazaki, E
    Okamura, N
    Montal, M
    Makita, N
    Tanaka, M
    Fukushima, K
    Fujiwara, T
    Inoue, Y
    Yamakawa, K
    JOURNAL OF NEUROSCIENCE, 2004, 24 (11) : 2690 - 2698
  • [2] Epilepsy as the symptom of a spinocerebellar ataxia 13 in a patient presenting with a mutation in the KCNC3 gene
    Li, Shao
    Shang, Dandan
    Du, Yanjiao
    Li, Yan
    Liu, Ruihua
    BMC NEUROLOGY, 2023, 23 (01)
  • [3] Epilepsy as the symptom of a spinocerebellar ataxia 13 in a patient presenting with a mutation in the KCNC3 gene
    Shao Li
    Dandan Shang
    Yanjiao Du
    Yan Li
    Ruihua Liu
    BMC Neurology, 23
  • [4] Autosomal dominant nocturnal frontal lobe epilepsy with a mutation in the CHRNB2 gene
    Diaz-Otero, Fernando
    Quesada, Mar
    Morales-Corraliza, Jose
    Martinez-Parra, Carlos
    Gomez-Garre, Pilar
    Serratosa, Jose M.
    EPILEPSIA, 2008, 49 (03) : 516 - 520
  • [5] A novel ATP1A2 gene mutation in familial hemiplegic migraine and epilepsy
    Costa, Cinzia
    Prontera, Paolo
    Sarchielli, Paola
    Tonelli, Alessandra
    Bassi, Maria Teresa
    Cupini, Letizia Maria
    Caproni, Stefano
    Siliquini, Sabrina
    Donti, Emilio
    Calabresi, Paolo
    CEPHALALGIA, 2014, 34 (01) : 68 - 72
  • [6] A Novel de novo Frameshift Mutation in the BCL11A Gene in a Patient with Intellectual Disability Syndrome and Epilepsy
    Korenke, Georg Christoph
    Schulte, Bjoern
    Biskup, Saskia
    Neidhardt, John
    Owczarek-Lipska, Marta
    MOLECULAR SYNDROMOLOGY, 2020, 11 (03) : 135 - 140
  • [7] A nonsense mutation in the CUL3 gene in a Chinese patient with autism spectrum disorder and epilepsy: A case report
    Qian, Meijia
    Lin, Shuangzhu
    Tan, Yangyang
    Chen, Qiandui
    Wang, Wanqi
    Li, Jiayi
    Mu, Chunyu
    MEDICINE, 2023, 102 (14) : E33457
  • [8] Identification of a novel mutation in GRIN2A gene with global developmental delay and refractory epilepsy
    Sarigecili, Esra
    Direk, Meltem Cobanogullari
    Komur, Mustafa
    Bozdogan, Sevcan Tug
    Okuyaz, Cetin
    ANNALS OF INDIAN ACADEMY OF NEUROLOGY, 2020, 23 (05) : 696 - +
  • [9] Balanced translocation in a patient with severe myoclonic epilepsy of infancy disrupts the sodium channel gene SCN1A
    Moller, Rikke S.
    Schneider, Lizette M.
    Hansen, Christian P.
    Bugge, Merete
    Ullmann, Reinhard
    Tommerup, Niels
    Tumer, Zeynep
    EPILEPSIA, 2008, 49 (06) : 1091 - 1094
  • [10] A New Nonsense Mutation in CDKL5 Gene in a Male Patient with Early Onset Refractory Epilepsy: a Case Report
    Ghafouri-Fard, Soudeh
    Salehpour, Shadab
    Yassaee, Vahidreza
    Miryounesi, Mohammad
    INTERNATIONAL JOURNAL OF PEDIATRICS-MASHHAD, 2016, 4 (02): : 1315 - 1318
123