Complex effects on Ca<sub>V</sub>2.1 channel gating caused by a CACNA1A variant associated with a severe neurodevelopmental disorder.

Grosso, Benjamin J; Kramer, Audra A; Tyagi, Sidharth; Bennett, Daniel F; Tifft, Cynthia J; D'Souza, Precilla; Wangler, Michael F; Macnamara, Ellen F; Meza, Ulises; Bannister, Roger A

Complex effects on Ca_V2.1 channel gating caused by a CACNA1A variant associated with a severe neurodevelopmental disorder.

Grosso, Benjamin J; Kramer, Audra A; Tyagi, Sidharth; Bennett, Daniel F; Tifft, Cynthia J; D'Souza, Precilla; Wangler, Michael F; Macnamara, Ellen F; Meza, Ulises; Bannister, Roger A.

Afiliación

Grosso BJ; Departments of Pathology/Biochemistry and Molecular Biology, University of Maryland School of Medicine, 108 North Greene Street, Room 208A, Baltimore, MD, 21201, USA.
Kramer AA; Departments of Pathology/Biochemistry and Molecular Biology, University of Maryland School of Medicine, 108 North Greene Street, Room 208A, Baltimore, MD, 21201, USA.
Tyagi S; Medical Scientist Training Program, Department of Neurology, Yale School of Medicine, New Haven, CT, 06520, USA.
Bennett DF; Departments of Pathology/Biochemistry and Molecular Biology, University of Maryland School of Medicine, 108 North Greene Street, Room 208A, Baltimore, MD, 21201, USA.
Tifft CJ; National Institutes of Health Undiagnosed Diseases Program, Common Fund, National Institutes of Health, Bethesda, MD, 20892, USA.
D'Souza P; National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, 20892, USA.
Wangler MF; National Institutes of Health Undiagnosed Diseases Program, Common Fund, National Institutes of Health, Bethesda, MD, 20892, USA.
Macnamara EF; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.
Meza U; National Institutes of Health Undiagnosed Diseases Program, Common Fund, National Institutes of Health, Bethesda, MD, 20892, USA.
Bannister RA; Department of Physiology and Biophysics, School of Medicine, Autonomous University of San Luis Potosí, Carranza #2405, SLP 78210, San Luis Potosí, Mexico.

Sci Rep ; 12(1): 9186, 2022 06 02.

Article en En | MEDLINE | ID: mdl-35655070

Asunto(s)

Canalopatías; Trastornos del Neurodesarrollo; Ataxia; Canales de Calcio/genética; Canales de Calcio Tipo N; Canalopatías/genética; Humanos; Hipotonía Muscular

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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Canalopatías / Trastornos del Neurodesarrollo Tipo de estudio: Risk_factors_studies Idioma: En Revista: Sci Rep Año: 2022 Tipo del documento: Article

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