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Biallelic CACNA1A mutations cause early onset epileptic encephalopathy with progressive cerebral, cerebellar, and optic nerve atrophy.
Reinson, Karit; Õiglane-Shlik, Eve; Talvik, Inga; Vaher, Ulvi; Õunapuu, Anne; Ennok, Margus; Teek, Rita; Pajusalu, Sander; Murumets, Ülle; Tomberg, Tiiu; Puusepp, Sanna; Piirsoo, Andres; Reimand, Tiia; Õunap, Katrin.
Afiliación
  • Reinson K; Department of Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia.
  • Õiglane-Shlik E; Department of Paediatrics, University of Tartu, Tartu, Estonia.
  • Talvik I; Department of Paediatrics, University of Tartu, Tartu, Estonia.
  • Vaher U; Children's Clinic, Tartu University Hospital, Tartu, Estonia.
  • Õunapuu A; Department of Paediatrics, University of Tartu, Tartu, Estonia.
  • Ennok M; Children's Clinic, Tartu University Hospital, Tartu, Estonia.
  • Teek R; Children's Clinic, Tartu University Hospital, Tartu, Estonia.
  • Pajusalu S; Neurology Clinic, Tartu University Hospital, Tartu, Estonia.
  • Murumets Ü; Neurology Clinic, Tartu University Hospital, Tartu, Estonia.
  • Tomberg T; Department of Neurology and Neurosurgery, University of Tartu, Tartu, Estonia.
  • Puusepp S; Department of Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia.
  • Piirsoo A; Department of Paediatrics, University of Tartu, Tartu, Estonia.
  • Reimand T; Department of Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia.
  • Õunap K; Institute of Biomedicine and Translational Medicine, Department of Biomedicine, University of Tartu, Tartu, Estonia.
Am J Med Genet A ; 170(8): 2173-6, 2016 08.
Article en En | MEDLINE | ID: mdl-27250579
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Encefalopatías / Canales de Calcio / Cerebelo / Atrofia Óptica / Alelos / Epilepsia / Malformaciones del Desarrollo Cortical / Mutación Tipo de estudio: Diagnostic_studies Límite: Female / Humans / Infant / Male Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2016 Tipo del documento: Article País de afiliación: Estonia
Texto completo
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XML
PubMed Links
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Encefalopatías / Canales de Calcio / Cerebelo / Atrofia Óptica / Alelos / Epilepsia / Malformaciones del Desarrollo Cortical / Mutación Tipo de estudio: Diagnostic_studies Límite: Female / Humans / Infant / Male Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2016 Tipo del documento: Article País de afiliación: Estonia