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UnknownThe role of common genetic variation in presumed monogenic epilepsies.
Not available
S-EPMC9188960 | biostudies-literature
UnknownDevelopment and Validation of a Prediction Model for Early Diagnosis of SCN1A-Related Epilepsies.
Not available
S-EPMC8935441 | biostudies-literature
UnknownCommon risk variants for epilepsy are enriched in families previously targeted for rare monogenic variant discovery.
Not available
S-EPMC9156876 | biostudies-literature
UnknownTargeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.
Not available
S-EPMC3704157 | biostudies-literature
UnknownGenome-wide Polygenic Burden of Rare Deleterious Variants in Sudden Unexpected Death in Epilepsy.
Not available
S-EPMC4588398 | biostudies-literature
UnknownA recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy.
Not available
S-EPMC4281260 | biostudies-literature
UnknownExome Sequencing and the Identification of New Genes and Shared Mechanisms in Polymicrogyria.
Not available
S-EPMC10366952 | biostudies-literature
UnknownPolygenic burden in focal and generalized epilepsies.
Not available
S-EPMC6821205 | biostudies-literature
UnknownTBC1D24 genotype-phenotype correlation: Epilepsies and other neurologic features.
Not available
S-EPMC4932231 | biostudies-literature
UnknownProgressive myoclonus epilepsies-Residual unsolved cases have marked genetic heterogeneity including dolichol-dependent protein glycosylation pathway genes.
Not available
S-EPMC8059372 | biostudies-literature
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