Genetic convergence of developmental and epileptic encephalopathies and intellectual disability.

Carvill, Gemma L; Jansen, Sandra; Lacroix, Amy; Zemel, Matthew; Mehaffey, Michele; De Vries, Petra; Brunner, Han G; Scheffer, Ingrid E; De Vries, Bert B A; Vissers, Lisenka E L M; Mefford, Heather C

Carvill, Gemma L; Jansen, Sandra; Lacroix, Amy; Zemel, Matthew; Mehaffey, Michele; De Vries, Petra; Brunner, Han G; Scheffer, Ingrid E; De Vries, Bert B A; Vissers, Lisenka E L M; Mefford, Heather C.

Afiliación

Carvill GL; Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL, USA.
Jansen S; Department of Pharmacology, Northwestern University Feinberg School of Medicine, Chicago, IL, USA.
Lacroix A; Department of Pediatrics, Northwestern University Feinberg School of Medicine, Chicago, IL, USA.
Zemel M; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.
Mehaffey M; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA, USA.
De Vries P; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA, USA.
Brunner HG; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA, USA.
Scheffer IE; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.
De Vries BBA; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.
Vissers LELM; Department of Clinical Genetics and GROW-School for Oncology and Developmental Biology, Maastricht University Medical Center, Maastricht, the Netherlands.
Mefford HC; Murdoch Children's Research and Florey Institutes, Austin and Royal Children's Hospital, University of Melbourne, Melbourne, Victoria, Australia.

Dev Med Child Neurol ; 63(12): 1441-1447, 2021 12.

Article en En | MEDLINE | ID: mdl-34247411

Asunto(s)

Discapacidad Intelectual/genética; Mutación; Canal de Sodio Activado por Voltaje NAV1.2/genética; Fenotipo; Receptores de N-Metil-D-Aspartato/genética; Espasmos Infantiles/genética; Adolescente; Niño; Exoma; Femenino; Humanos; Lactante; Masculino

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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Fenotipo / Espasmos Infantiles / Receptores de N-Metil-D-Aspartato / Canal de Sodio Activado por Voltaje NAV1.2 / Discapacidad Intelectual / Mutación Límite: Adolescent / Child / Female / Humans / Infant / Male Idioma: En Revista: Dev Med Child Neurol Año: 2021 Tipo del documento: Article País de afiliación: Estados Unidos

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