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A novel mutation in the endosomal Na+/H+ exchanger NHE6 (SLC9A6) causes Christianson syndrome with electrical status epilepticus during slow-wave sleep (ESES).
Zanni, Ginevra; Barresi, Sabina; Cohen, Roni; Specchio, Nicola; Basel-Vanagaite, Lina; Valente, Enza Maria; Shuper, Avinoam; Vigevano, Federico; Bertini, Enrico.
Afiliación
  • Zanni G; Unit of Molecular Medicine for Neuromuscular and Neurodegenerative disorders, Department of Neurosciences, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy. Electronic address: ginevra.zanni@opbg.net.
  • Barresi S; Unit of Molecular Medicine for Neuromuscular and Neurodegenerative disorders, Department of Neurosciences, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • Cohen R; Schneider's Children Medical Center of Israel and Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.
  • Specchio N; Division of Neurology, Department of Neurosciences, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • Basel-Vanagaite L; Schneider's Children Medical Center of Israel and Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.
  • Valente EM; Unit of Neurogenetics, Mendel Laboratory, IRCCS Casa Sollievo della Sofferenza Institute, San Giovanni Rotondo, Italy.
  • Shuper A; Schneider's Children Medical Center of Israel and Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.
  • Vigevano F; Division of Neurology, Department of Neurosciences, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • Bertini E; Unit of Molecular Medicine for Neuromuscular and Neurodegenerative disorders, Department of Neurosciences, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Epilepsy Res ; 108(4): 811-5, 2014 May.
Article en En | MEDLINE | ID: mdl-24630051
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Ataxia / Sueño / Estado Epiléptico / Trastornos de la Motilidad Ocular / Intercambiadores de Sodio-Hidrógeno / Enfermedades Genéticas Ligadas al Cromosoma X / Epilepsia / Discapacidad Intelectual / Microcefalia / Mutación Tipo de estudio: Etiology_studies / Prognostic_studies Límite: Child / Humans / Male Idioma: En Revista: Epilepsy Res Asunto de la revista: CEREBRO / NEUROLOGIA Año: 2014 Tipo del documento: Article
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Ataxia / Sueño / Estado Epiléptico / Trastornos de la Motilidad Ocular / Intercambiadores de Sodio-Hidrógeno / Enfermedades Genéticas Ligadas al Cromosoma X / Epilepsia / Discapacidad Intelectual / Microcefalia / Mutación Tipo de estudio: Etiology_studies / Prognostic_studies Límite: Child / Humans / Male Idioma: En Revista: Epilepsy Res Asunto de la revista: CEREBRO / NEUROLOGIA Año: 2014 Tipo del documento: Article