List of works - Hiltrud Muhle

15q13.3 microdeletions increase risk of idiopathic generalized epilepsy

scientific article

Absence seizures with intellectual disability as a phenotype of the 15q13.3 microdeletion syndrome ⬇️

scientific article published on November 2, 2011

Burden analysis of rare microdeletions suggests a strong impact of neurodevelopmental genes in genetic generalised epilepsies

scientific article

Clinical spectrum of STX1B-related epileptic disorders.

scientific article published on 8 February 2019

De novo variants in neurodevelopmental disorders with epilepsy

scientific article published on 25 June 2018

Exon-disrupting deletions of NRXN1 in idiopathic generalized epilepsy

scientific article published on 7 January 2013

GABRA1 and STXBP1: novel genetic causes of Dravet syndrome

scientific article published on 12 March 2014

Galanin pathogenic mutations in temporal lobe epilepsy

scientific article

Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders.

scientific article published on 4 March 2017

Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32.

scientific article

Genome-wide copy number variation in epilepsy: novel susceptibility loci in idiopathic generalized and focal epilepsies

scientific article

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

article

Investigating the genetic basis of fever-associated syndromic epilepsies using copy number variation analysis.

scientific article

Mutations in GABRB3: From febrile seizures to epileptic encephalopathies.

scientific article published on 4 January 2017

Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes

scientific article published on 11 August 2013

Phenotypic spectrum of GABRA1: From generalized epilepsies to severe epileptic encephalopathies.

scientific article

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

article

Rare variants in γ-aminobutyric acid type A receptor genes in rolandic epilepsy and related syndromes

scientific article

Recurrent 200-kb deletions of 16p11.2 that include the SH2B1 gene are associated with developmental delay and obesity

scientific article published in October 2010

Recurrent de novo mutations of SCN1A in severe myoclonic epilepsy of infancy

scientific article

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

scientific article

Spectrum of Phenotypic, Genetic, and Functional Characteristics in Patients With Epilepsy With <i>KCNC2</i> Pathogenic Variants

scientific article published on 21 March 2022

List of works by Hiltrud Muhle

15q13.3 microdeletions increase risk of idiopathic generalized epilepsy

Absence seizures with intellectual disability as a phenotype of the 15q13.3 microdeletion syndrome ⬇️

Burden analysis of rare microdeletions suggests a strong impact of neurodevelopmental genes in genetic generalised epilepsies

Clinical spectrum of STX1B-related epileptic disorders.

De novo variants in neurodevelopmental disorders with epilepsy

Exon-disrupting deletions of NRXN1 in idiopathic generalized epilepsy

GABRA1 and STXBP1: novel genetic causes of Dravet syndrome

Galanin pathogenic mutations in temporal lobe epilepsy

Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders.

Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32.

Genome-wide copy number variation in epilepsy: novel susceptibility loci in idiopathic generalized and focal epilepsies

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

Investigating the genetic basis of fever-associated syndromic epilepsies using copy number variation analysis.

Mutations in GABRB3: From febrile seizures to epileptic encephalopathies.

Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes

Phenotypic spectrum of GABRA1: From generalized epilepsies to severe epileptic encephalopathies.

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

Rare variants in γ-aminobutyric acid type A receptor genes in rolandic epilepsy and related syndromes

Recurrent 200-kb deletions of 16p11.2 that include the SH2B1 gene are associated with developmental delay and obesity

Recurrent de novo mutations of SCN1A in severe myoclonic epilepsy of infancy

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

Spectrum of Phenotypic, Genetic, and Functional Characteristics in Patients With Epilepsy With <i>KCNC2</i> Pathogenic Variants