UNC80 mutation causes a syndrome of hypotonia, severe intellectual disability, dyskinesia and dysmorphism, similar to that caused by mutations in its interacting cation channel NALCN.

Perez, Yonatan; Kadir, Rotem; Volodarsky, Michael; Noyman, Iris; Flusser, Hagit; Shorer, Zamir; Gradstein, Libe; Birnbaum, Ramon Y; Birk, Ohad S

Perez, Yonatan; Kadir, Rotem; Volodarsky, Michael; Noyman, Iris; Flusser, Hagit; Shorer, Zamir; Gradstein, Libe; Birnbaum, Ramon Y; Birk, Ohad S.

Afiliação

Perez Y; The Morris Kahn Laboratory of Human Genetics, National Institute for Biotechnology in the Negev, Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer Sheva, Israel.
Kadir R; The Morris Kahn Laboratory of Human Genetics, National Institute for Biotechnology in the Negev, Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer Sheva, Israel.
Volodarsky M; The Morris Kahn Laboratory of Human Genetics, National Institute for Biotechnology in the Negev, Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer Sheva, Israel.
Noyman I; Pediatric Neurology Unit, Division of Pediatrics, Faculty of Health Sciences, Soroka University Medical Center, Ben-Gurion University of the Negev, Beer Sheva, Israel.
Flusser H; Zussman Child Development Center, Faculty of Health Sciences, Soroka University Medical Center, Ben-Gurion University of the Negev, Beer Sheva, Israel.
Shorer Z; Pediatric Neurology Unit, Division of Pediatrics, Faculty of Health Sciences, Soroka University Medical Center, Ben-Gurion University of the Negev, Beer Sheva, Israel.
Gradstein L; Department of Ophthalmology, Faculty of Health Sciences, Soroka Medical Center and Clalit Health Services, Ben-Gurion University of the Negev, Beer Sheva, Israel.
Birnbaum RY; Department of Life Sciences, Faculty of Natural Sciences, Ben-Gurion University of the Negev, Beer Sheva, Israel.
Birk OS; The Morris Kahn Laboratory of Human Genetics, National Institute for Biotechnology in the Negev, Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer Sheva, Israel Genetics Institute, Soroka University Medical Center, Ben-Gurion University of the Negev, Beer Sheva, Israel.

J Med Genet ; 53(6): 397-402, 2016 06.

Article em En | MEDLINE | ID: mdl-26545877

Assuntos

Proteínas de Transporte/genética; Cátions/metabolismo; Códon sem Sentido/genética; Discinesias/genética; Deficiência Intelectual/genética; Proteínas de Membrana/genética; Hipotonia Muscular/genética; Canais de Sódio/genética; Epilepsia/genética; Exoma/genética; Feminino; Ligação Genética/genética; Homozigoto; Humanos; Canais Iônicos; Masculino; Neurônios; Síndrome

Palavras-chave

Clinical genetics; Linkage; Molecular genetics; Neurology

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Canais de Sódio / Proteínas de Transporte / Cátions / Códon sem Sentido / Discinesias / Proteínas de Membrana / Deficiência Intelectual / Hipotonia Muscular Tipo de estudo: Etiology_studies / Prognostic_studies Limite: Female / Humans / Male Idioma: En Revista: J Med Genet Ano de publicação: 2016 Tipo de documento: Article País de afiliação: Israel

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