SLC6A1 G443D associated with developmental delay and epilepsy

SLC6A1 is associated with an autosomal dominant early-onset seizure and epileptic encephalopathy associated with intellectual disability. We present a 2-yr-old girl with developmental delay and epilepsy, using a new computational filtering impact score to show the patient's variant ranks with o...

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Detalles Bibliográficos
Autores principales: Devries, Seth, Mulder, Monica, Charron, Jacob G., Prokop, Jeremy W., Mark, Paul R.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory Press 2020
Materias:
Rapid Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7476406/
https://www.ncbi.nlm.nih.gov/pubmed/32660967
http://dx.doi.org/10.1101/mcs.a005371

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7476406/
https://www.ncbi.nlm.nih.gov/pubmed/32660967
http://dx.doi.org/10.1101/mcs.a005371

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