De novo missense variant in the GTPase effector domain (GED) of <i>DNM1L</i> leads to static encephalopathy and seizures.

Assia Batzir, Nurit; Bhagwat, Pranjali K; Eble, Tanya N; Liu, Pengfei; Eng, Christine M; Elsea, Sarah H; Robak, Laurie A; Scaglia, Fernando; Goldman, Alica M; Dhar, Shweta U; Wangler, Michael F

De novo missense variant in the GTPase effector domain (GED) of DNM1L leads to static encephalopathy and seizures.

Assia Batzir, Nurit; Bhagwat, Pranjali K; Eble, Tanya N; Liu, Pengfei; Eng, Christine M; Elsea, Sarah H; Robak, Laurie A; Scaglia, Fernando; Goldman, Alica M; Dhar, Shweta U; Wangler, Michael F.

Afiliación

Assia Batzir N; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA.
Bhagwat PK; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA.
Eble TN; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, Texas 77030, USA.
Liu P; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA.
Eng CM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA.
Elsea SH; Baylor Genetics, Houston, Texas 77021, USA.
Robak LA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA.
Scaglia F; Baylor Genetics, Houston, Texas 77021, USA.
Goldman AM; Texas Children's Hospital, Houston, Texas 77030, USA.
Dhar SU; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA.
Wangler MF; Baylor Genetics, Houston, Texas 77021, USA.

Cold Spring Harb Mol Case Stud ; 5(3)2019 06.

Article en En | MEDLINE | ID: mdl-30850373

Asunto(s)

Encefalopatías/diagnóstico; Encefalopatías/genética; Dinaminas/genética; Convulsiones/genética; Adulto; Alelos; Encefalopatías/patología; Femenino; GTP Fosfohidrolasas/genética; Heterocigoto; Humanos; Mitocondrias/genética; Mitocondrias/patología; Músculos/patología; Mutación Missense; Peroxisomas/genética; Peroxisomas/patología; Convulsiones/patología

Palabras clave

abnormal mitochondria in muscle tissue; central hypotonia; epileptic encephalopathy; slowly progressive spastic quadriparesis

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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Convulsiones / Encefalopatías / Dinaminas Límite: Adult / Female / Humans Idioma: En Revista: Cold Spring Harb Mol Case Stud Año: 2019 Tipo del documento: Article País de afiliación: Estados Unidos

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