A novel possible familial cause of epilepsy of infancy with migrating focal seizures related to SZT2 gene variant

Seizure threshold‐2 (SZT2) gene variants have been associated with a decrease in seizure threshold resulting in variable phenotypic expressions ranging from mild‐moderate intellectual disabilities without seizures, to an early‐onset epileptic encephalopathy with severe cognitive impairment. In addit...

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Detalles Bibliográficos
Autores principales: El Halabi, Tarek, Dirani, Maya, Hotait, Mostafa, Nasreddine, Wassim, Beydoun, Ahmad
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Special Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7918305/
https://www.ncbi.nlm.nih.gov/pubmed/33681650
http://dx.doi.org/10.1002/epi4.12451

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7918305/
https://www.ncbi.nlm.nih.gov/pubmed/33681650
http://dx.doi.org/10.1002/epi4.12451

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