Results 271 to 280 of about 345,837 (361)

Familial SYNGAP1 variants define the boundaries of a complex neurodevelopmental disorder with epilepsy

open access: yesEpilepsia, EarlyView.
Abstract Objective SYNGAP1‐related disorders are common neurodevelopmental conditions characterized by autism spectrum disorder, developmental delay, intellectual disability, and a range of generalized seizure types. Disease‐causing variants in SYNGAP1 typically occur de novo. This study aims to characterize inherited cases of SYNGAP1‐related disorders.
Alicia G. Harrison   +10 more
wiley   +1 more source

SCN9A should not be considered an epilepsy gene; Refuting a gene–disease association

open access: yesEpilepsia, EarlyView.
Abstract Objective The SCN9A gene is primarily expressed in nociceptive pathways within the peripheral nervous system, and pathogenic variants are associated with human pain disorders. In recent years, several studies have proposed SCN9A as a monogenic cause of epilepsy.
Ismael Ghanty   +7 more
wiley   +1 more source

Iron Status: A Possible Risk Factor for the First Febrile Seizure

open access: bronze, 2002
Azhar S. Daoud   +5 more
openalex   +1 more source

Broadening the phenotype associated with pathogenic variants in the FGF12 gene: From developmental and epileptic encephalopathy to drug‐responsive epilepsy with favorable cognitive outcome

open access: yesEpilepsia, EarlyView.
Abstract The fibroblast growth factor 12 (FGF12) gene encodes a protein interacting with voltage‐gated sodium channels. Two variants, p.(Arg52His) and p.(Gly50Ser), have repeatedly been associated with developmental and epileptic encephalopathy‐47 (DEE47; Mendelian Inheritance in Man #617166) with poor outcome.
Clément Pierret   +17 more
wiley   +1 more source

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