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Genetics in Medicine (3)
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Showing 1–6 of 6 results

Advanced filters: Author: Inga Talvik Clear advanced filters

SLCO5A1 and synaptic assembly genes contribute to impulsivity in juvenile myoclonic epilepsy

Delnaz Roshandel
Eric J. Sanders
Helen Cockerill
ResearchOpen Access28 Sept 2023
npj Genomic Medicine

Volume: 8, P: 1-11
The landscape of epilepsy-related GATOR1 variants

Sara Baldassari
Fabienne Picard
Stéphanie Baulac
ResearchOpen Access10 Aug 2018
Genetics in Medicine

Volume: 21, P: 398-408
Compound heterozygous SPATA5 variants in four families and functional studies of SPATA5 deficiency

Sanna Puusepp
Reka Kovacs-Nagy
Katrin Õunap
ResearchOpen Access17 Jan 2018
European Journal of Human Genetics

Volume: 26, P: 407-419
De novo variants in neurodevelopmental disorders with epilepsy

Analysis of individuals with neurodevelopmental disorders (NDDs) with epilepsy identifies 33 genes with a significant excess of de novo variants. Comparison of rates of de novo variants between NDDs with or without epilepsy highlights differences between these phenotypic groups.

Henrike O. Heyne
Tarjinder Singh
Johannes R. Lemke
Research25 Jun 2018
Nature Genetics

Volume: 50, P: 1048-1053
Correction to: The landscape of epilepsy-related GATOR1 variants

Sara Baldassari
Fabienne Picard
Stéphanie Baulac
Amendments and Corrections29 Aug 2018
Genetics in Medicine

Volume: 21, P: 1671
Correction: The landscape of epilepsy-related GATOR1 variants

Sara Baldassari
Fabienne Picard
Stéphanie Baulac
Amendments and Corrections27 Sept 2018
Genetics in Medicine

Volume: 21, P: 1896