Gaëtan Lesca

Phenotypic Spectrum in Individuals With Pathogenic <i>GABRG2</i> Loss- and Gain-of-Function Variants

Bi-allelic pathogenic variants in TRMT1 disrupt tRNA modification and induce a neurodevelopmental disorder

The Spectrum of Neurologic Phenotypes Associated With <scp><i>NUS1</i></scp> Pathogenic Variants: A Comprehensive Case Series

GRIN2A null variants confer a high risk for early-onset schizophrenia and other mental disorders and potentially enable precision therapy

Germline mutations in a G protein identify signaling cross-talk in T cells

Diagnostic utility of DNA methylation analysis in genetically unsolved pediatric epilepsies and CHD2 episignature refinement

Understanding paralogous epilepsy–associated GABA _A receptor variants: Clinical implications, mechanisms, and potential pitfalls

<i>De novo</i> and inherited monoallelic variants in <i>TUBA4A</i> cause ataxia and spasticity

RORA-neurodevelopmental disorder: A unique triad of developmental disabilities, cerebellar anomalies, and myoclonic seizures

Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disorders

Biallelic pathogenic variants in TRMT1 disrupt tRNA modification and induce a syndromic neurodevelopmental disorder

Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders

Gain-of-function and loss-of-function variants in <i>GRIA3</i> lead to distinct neurodevelopmental phenotypes

Delineation of the adult phenotype of Coffin–Siris syndrome in 35 individuals

<i>WWOX</i>developmental and epileptic encephalopathy: Understanding the epileptology and the mortality risk

<i><scp>KCNT2</scp>‐</i>Related Disorders: Phenotypes, Functional, and Pharmacological Properties

<scp><i>SORD</i></scp>‐related peripheral neuropathy in a French and Swiss cohort: Clinical features, genetic analyses, and sorbitol dosages

Developmental epileptic encephalopathy in <i>DLG4</i>‐related synaptopathy

BRAT1–related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients

Exome sequencing of ATP1A3-negative cases of alternating hemiplegia of childhood reveals SCN2A as a novel causative gene

The gain of function <i>SCN1A</i> disorder spectrum: novel epilepsy phenotypes and therapeutic implications

Gain-of-function and loss-of-function GABRB3 variants lead to distinct clinical phenotypes in patients with developmental and epileptic encephalopathies

Drosophila functional screening of de novo variants in autism uncovers damaging variants and facilitates discovery of rare neurodevelopmental diseases

Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants

KCNQ2 R144 variants cause neurodevelopmental disability with language impairment and autistic features without neonatal seizures through a gain-of-function mechanism

Gain of function due to increased opening probability by two <i>KCNQ5</i> pore variants causing developmental and epileptic encephalopathy

DNASE1L3 deficiency, new phenotypes, and evidence for a transient type I IFN signaling

Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein

The different clinical facets of SYN1-related neurodevelopmental disorders

CDK13-related disorder: Report of a series of 18 previously unpublished individuals and description of an epigenetic signature