A Novel de novo KIF1A Mutation in a Patient with Autism, Hyperactivity, Epilepsy, Sensory Disturbance, and Spastic Paraplegia.

Kurihara, Masanori; Ishiura, Hiroyuki; Bannai, Taro; Mitsui, Jun; Yoshimura, Jun; Morishita, Shinichi; Hayashi, Toshihiro; Shimizu, Jun; Toda, Tatsushi; Tsuji, Shoji

Kurihara, Masanori; Ishiura, Hiroyuki; Bannai, Taro; Mitsui, Jun; Yoshimura, Jun; Morishita, Shinichi; Hayashi, Toshihiro; Shimizu, Jun; Toda, Tatsushi; Tsuji, Shoji.

Afiliação

Kurihara M; Department of Neurology, Graduate School of Medicine, The University of Tokyo, Japan.
Ishiura H; Department of Neurology, Graduate School of Medicine, The University of Tokyo, Japan.
Bannai T; Department of Neurology, Graduate School of Medicine, The University of Tokyo, Japan.
Mitsui J; Department of Neurology, Graduate School of Medicine, The University of Tokyo, Japan.
Yoshimura J; Department of Molecular Neurology, Graduate School of Medicine, The University of Tokyo, Japan.
Morishita S; Department of Computational Biology and Medical Sciences, Graduate School of Frontier Sciences, The University of Tokyo, Japan.
Hayashi T; Department of Computational Biology and Medical Sciences, Graduate School of Frontier Sciences, The University of Tokyo, Japan.
Shimizu J; Department of Neurology, Graduate School of Medicine, The University of Tokyo, Japan.
Toda T; Department of Physiology, Teikyo University School of Medicine, Japan.
Tsuji S; Department of Neurology, Graduate School of Medicine, The University of Tokyo, Japan.

Intern Med ; 59(6): 839-842, 2020 Mar 15.

Article em En | MEDLINE | ID: mdl-31813911

Assuntos

Transtorno do Deficit de Atenção com Hiperatividade/complicações; Transtorno Autístico/complicações; Cinesinas/genética; Transtornos de Sensação/complicações; Adolescente; Epilepsia/complicações; Heterozigoto; Humanos; Deficiência Intelectual/genética; Masculino; Mutação; Mutação de Sentido Incorreto; Paraplegia/complicações

Palavras-chave

KIF1A; attention deficit disorder with hyperactivity; autism; hereditary sensory and autonomic neuropathies; psychomotor hyperactivity; spastic paraplegia

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Transtorno do Deficit de Atenção com Hiperatividade / Transtorno Autístico / Cinesinas / Transtornos de Sensação Limite: Adolescent / Humans / Male Idioma: En Revista: Intern Med Assunto da revista: MEDICINA INTERNA Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Japão

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