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GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture

Genome-wide association meta-analyses identify 26 risk loci for epilepsy, including 19 loci specific to genetic generalized epilepsy. Prioritized candidate genes implicate synaptic processes and overlap with targets of antiseizure medications.

Remi Stevelink
Ciarán Campbell
Quratulain Zulfiqar Ali
ResearchOpen Access31 Aug 2023
Nature Genetics

Volume: 55, P: 1471-1482
Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes

In this largest whole-exome sequencing study of epilepsies to date, the Epi25 Collaborative identified extremely rare variants that confer risk for diverse epilepsy subtypes, highlighting roles in synaptic transmission and neuronal excitability.

Siwei Chen
Bassel W. Abou-Khalil
Samuel F. Berkovic
Research03 Oct 2024
Nature Neuroscience

Volume: 27, P: 1864-1879
Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals

Here, the authors perform a meta-analysis in 26,699 people with seizures and 492,324 controls to identify 25 genome-wide significant copy-number variants. The discovered loci point to known disease genes and associations with clinical annotations.

Ludovica Montanucci
David Lewis-Smith
Dennis Lal
ResearchOpen Access20 Jul 2023
Nature Communications

Volume: 14, P: 1-19
A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy

Anna-Elina Lehesjoki and colleagues report exome sequencing of 84 cases of progressive myoclonus epilepsy (PME) and targeted resequencing of an additional 28 cases. They identify de novo mutations in KCNC1 in 13 cases and mutations in genes not previously associated with PME, including PRNP, SACS and TBC1D24, in additional cases.

Mikko Muona
Samuel F Berkovic
Anna-Elina Lehesjoki
Research17 Nov 2014
Nature Genetics

Volume: 47, P: 39-46
120 EFFECTS OF LIDOCAINE AND QUINIDINE ON THE ELECTROPHYSIOLOGIC PROPERTIES OF NEONATAL AND ADULT CANINE CARDIAC PURKINJE FIBERS

Allan Hordof
Luc Mary-Rabine
Welton M Gersony
Research01 Apr 1978
Pediatric Research

Volume: 12, P: 383
Genome-wide mega-analysis identifies 16 loci and highlights diverse biological mechanisms in the common epilepsies

Epilepsies are common brain disorders and are classified based on clinical phenotyping, imaging and genetics. Here, the authors perform genome-wide association studies for 3 broad and 7 subtypes of epilepsy and identify 16 loci - 11 novel - that are further annotated by eQTL and partitioned heritability analyses.

Bassel Abou-Khalil
Pauls Auce
Fritz Zimprich
ResearchOpen Access10 Dec 2018
Nature Communications

Volume: 9, P: 1-15
c-fos regulates neuronal excitability and survival

Jianhua Zhang
Dongsheng Zhang
Ming Xu
Research04 Mar 2002
Nature Genetics

Volume: 30, P: 416-420

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GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture

Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes

Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals

A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy

120 EFFECTS OF LIDOCAINE AND QUINIDINE ON THE ELECTROPHYSIOLOGIC PROPERTIES OF NEONATAL AND ADULT CANINE CARDIAC PURKINJE FIBERS

Genome-wide mega-analysis identifies 16 loci and highlights diverse biological mechanisms in the common epilepsies

c-fos regulates neuronal excitability and survival

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GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture

Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes

Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals

A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy

120 EFFECTS OF LIDOCAINE AND QUINIDINE ON THE ELECTROPHYSIOLOGIC PROPERTIES OF NEONATAL AND ADULT CANINE CARDIAC PURKINJE FIBERS

Genome-wide mega-analysis identifies 16 loci and highlights diverse biological mechanisms in the common epilepsies

c-fos regulates neuronal excitability and survival

Search

Quick links