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Expanding the phenotype of TRAK1 mutations: hyperekplexia and refractory status epilepticus.
Sagie, Shira; Lerman-Sagie, Tally; Maljevic, Snezana; Yosovich, Keren; Detert, Katja; Chung, Seo-Kyung; Rees, Mark I; Lerche, Holger; Lev, Dorit.
Afiliación
  • Sagie S; Sackler School of Medicine, Tel-Aviv University, Tel-Aviv, Israel.
  • Lerman-Sagie T; Sackler School of Medicine, Tel-Aviv University, Tel-Aviv, Israel.
  • Maljevic S; Pediatric Neurology Unit, Wolfson Medical Center, Holon, Israel.
  • Yosovich K; Metabolic-Neurogenetic Clinic, Wolfson Medical Center, Holon, Israel.
  • Detert K; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.
  • Chung SK; Florey Institute of Neuroscience and Mental Health, The University of Melbourne, Parkville, Victoria, Australia.
  • Rees MI; Molecular Laboratory, Wolfson Medical Center, Holon, Israel.
  • Lerche H; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.
  • Lev D; Institute of Life Sciences, Swansea University Medical School, Swansea University, UK.
Brain ; 141(7): e55, 2018 07 01.
Article en En | MEDLINE | ID: mdl-29846532
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Reflejo Anormal / Enfermedades Genéticas Ligadas al Cromosoma X / Proteínas Adaptadoras del Transporte Vesicular / Epilepsia Límite: Female / Humans / Male Idioma: En Año: 2018 Tipo del documento: Article
Texto completo
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PubMed Links
Buscar en Google

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Reflejo Anormal / Enfermedades Genéticas Ligadas al Cromosoma X / Proteínas Adaptadoras del Transporte Vesicular / Epilepsia Límite: Female / Humans / Male Idioma: En Año: 2018 Tipo del documento: Article