Expanding the spectrum of KCNJ6-related disorders: Milder phenotype with pathological startle responses.

van Midden, Vesna Marija; Kinsley, Lisa; Fraint, Avram; Krainc, Dimitri; Mencacci, Niccolò E

van Midden, Vesna Marija; Kinsley, Lisa; Fraint, Avram; Krainc, Dimitri; Mencacci, Niccolò E.

Afiliación

van Midden VM; Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, Illinois, USA.
Kinsley L; Department of Neurology, University Medical Centre Ljubljana, Ljubljana, Slovenia.
Fraint A; Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, Illinois, USA.
Krainc D; Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, Illinois, USA.
Mencacci NE; Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, Illinois, USA.

Clin Genet ; 103(1): 103-108, 2023 01.

Article en En | MEDLINE | ID: mdl-36071510

Asunto(s)

Canales de Potasio Rectificados Internamente Asociados a la Proteína G; Reflejo de Sobresalto; Humanos; Reflejo de Sobresalto/genética

Palabras clave

Girk2; KCNJ6; KCNJ6-related disorders; Keppen-Lubinsky syndrome; case report; startle response

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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Reflejo de Sobresalto / Canales de Potasio Rectificados Internamente Asociados a la Proteína G Límite: Humans Idioma: En Revista: Clin Genet Año: 2023 Tipo del documento: Article País de afiliación: Estados Unidos

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