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STX1B-related epilepsy in a 24-month-old female infant

We report on a 24-month-old girl with age-appropriate development and normal intellectual ability suffering from myoclonic astatic epilepsy. Panel-based sequencing of roughly 1500 genes associated with neurodevelopmental and metabolic diseases identified a heterozygous de novo point mutation in STX1...

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Detalles Bibliográficos
Autores principales:	Burghardt, Katharina, Baba, Naomi, Schreyer, Isolde, Graneß, Irene, Hübner, Christian A.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Elsevier 2020
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7777061/ https://www.ncbi.nlm.nih.gov/pubmed/33426515 http://dx.doi.org/10.1016/j.ebr.2020.100391

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