Clinical heterogeneity associated with KCNA1 mutations include cataplexy and nonataxic presentations.

Brownstein, Catherine A; Beggs, Alan H; Rodan, Lance; Shi, Jiahai; Towne, Meghan C; Pelletier, Renee; Cao, Siqi; Rosenberg, Paul A; Urion, David K; Picker, Jonathan; Tan, Wen-Hann; Agrawal, Pankaj B

Brownstein, Catherine A; Beggs, Alan H; Rodan, Lance; Shi, Jiahai; Towne, Meghan C; Pelletier, Renee; Cao, Siqi; Rosenberg, Paul A; Urion, David K; Picker, Jonathan; Tan, Wen-Hann; Agrawal, Pankaj B.

Afiliação

Brownstein CA; Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, 300 Longwood Ave, Boston, MA, 02115, USA. catherine.brownstein@childrens.harvard.edu.
Beggs AH; The Manton Center for Orphan Disease Research, Boston Children's Hospital and Harvard Medical School, 300 Longwood Ave, Boston, MA, 02115, USA. catherine.brownstein@childrens.harvard.edu.
Rodan L; Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, 300 Longwood Ave, Boston, MA, 02115, USA.
Shi J; The Manton Center for Orphan Disease Research, Boston Children's Hospital and Harvard Medical School, 300 Longwood Ave, Boston, MA, 02115, USA.
Towne MC; Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, 300 Longwood Ave, Boston, MA, 02115, USA.
Pelletier R; Whitehead Institute for Biomedical Research, MIT, Cambridge, MA, USA.
Cao S; Department of Biomedical Sciences, City University of Hong Kong, Kowloon, Hong Kong.
Rosenberg PA; Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, 300 Longwood Ave, Boston, MA, 02115, USA.
Urion DK; The Manton Center for Orphan Disease Research, Boston Children's Hospital and Harvard Medical School, 300 Longwood Ave, Boston, MA, 02115, USA.
Picker J; Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, 300 Longwood Ave, Boston, MA, 02115, USA.
Tan WH; The Manton Center for Orphan Disease Research, Boston Children's Hospital and Harvard Medical School, 300 Longwood Ave, Boston, MA, 02115, USA.
Agrawal PB; Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, 300 Longwood Ave, Boston, MA, 02115, USA.

Neurogenetics ; 17(1): 11-6, 2016 Jan.

Article em En | MEDLINE | ID: mdl-26395884

Assuntos

Ataxia/genética; Cataplexia/genética; Canal de Potássio Kv1.1/genética; Mutação; Mioquimia/genética; Adolescente; Adulto; Criança; Feminino; Heterogeneidade Genética; Humanos; Masculino; Pessoa de Meia-Idade; Mutação de Sentido Incorreto; Linhagem; Fenótipo; Adulto Jovem

Palavras-chave

Cataplexy; Episodic ataxia; Hypertonia; KCNA1; Whole exome sequencing

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Ataxia / Cataplexia / Mioquimia / Canal de Potássio Kv1.1 / Mutação Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Adolescent / Adult / Child / Female / Humans / Male / Middle aged Idioma: En Revista: Neurogenetics Assunto da revista: GENETICA / NEUROLOGIA Ano de publicação: 2016 Tipo de documento: Article País de afiliação: Estados Unidos

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