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List of works by Costin Leu

15q13.3 microdeletions increase risk of idiopathic generalized epilepsy

scientific article

1q21.1 distal copy number variants are associated with cerebral and cognitive alterations in humans

scientific article published on 22 March 2021

A systems-level analysis highlights microglial activation as a modifying factor in common forms of human epilepsy

Analysis of shared heritability in common disorders of the brain

scientific article published on 21 June 2018

Are <scp>AI</scp> language models such as <scp>ChatGPT</scp> ready to improve the care of individuals with epilepsy?

scientific article published in 2023

Assessment of genetic variant burden in epilepsy-associated brain lesions

scientific article published on 29 July 2019

Clinical sequencing yield in epilepsy, autism spectrum disorder, and intellectual disability: A systematic review and meta-analysis

scientific article published on 17 November 2020

Correction: Dose response of the 16p11.2 distal copy number variant on intracranial volume and basal ganglia

scientific article published on 01 March 2020

Dysfunction of NaV1.4, a skeletal muscle voltage-gated sodium channel, in sudden infant death syndrome: a case-control study.

scientific article published on 5 April 2018

Epilepsy, hippocampal sclerosis and febrile seizures linked by common genetic variation around SCN1A.

scientific article published on 06 September 2013

Genetic variants in the bipolar disorder risk locus SYNE1 that affect CPG2 expression and protein function

scientific article published on 04 January 2019

Genome-wide association study: Exploring the genetic basis for responsiveness to ketogenic dietary therapies for drug-resistant epilepsy

scientific article published on 16 July 2018

Genome-wide linkage meta-analysis identifies susceptibility loci at 2q34 and 13q31.3 for genetic generalized epilepsies

article

Pleiotropy of polygenic factors associated with focal and generalized epilepsy in the general population

scientific article published on 28 April 2020

Polygenic burden in focal and generalized epilepsies

scientific article published on 01 November 2019

Polygenic risk heterogeneity among focal epilepsies

scientific article published on 14 October 2020

Progress from genome-wide association studies and copy number variant studies in epilepsy.

scientific article published on 16 February 2016

Rare coding variants in genes encoding GABAA receptors in genetic generalised epilepsies: an exome-based case-control study

article

Rare exonic deletions of the RBFOX1 gene increase risk of idiopathic generalized epilepsy

scientific article published on January 25, 2013

Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies

scientific article

The phenotypic spectrum associated with loss-of-function variants in monogenic epilepsy genes in the general population

scientific article published in 2022

Variants in KCNJ11 and BAD do not predict response to ketogenic dietary therapies for epilepsy.

scientific article published on 24 October 2015