List of works - Holger Lerche

15q13.3 microdeletions increase risk of idiopathic generalized epilepsy

scientific article

16p11.2 600 kb Duplications confer risk for typical and atypical Rolandic epilepsy

scientific article published on 16 June 2014

Analysis of shared heritability in common disorders of the brain

scientific article published on 21 June 2018

Axon initial segment dysfunction in a mouse model of genetic epilepsy with febrile seizures plus

scientific article

Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutation

scientific article published on 17 December 2015

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 loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndrome

scientific article

Drug-resistant epilepsy - time to target mechanisms

scientific article published on 06 October 2020

Early-onset absence epilepsy caused by mutations in the glucose transporter GLUT1.

scientific article published in September 2009

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

scientific article published on 06 September 2013

Exon-disrupting deletions of NRXN1 in idiopathic generalized epilepsy

scientific article published on 7 January 2013

Exploration of the genetic architecture of idiopathic generalized epilepsies.

scientific article published in October 2006

GLUT1 mutations are a cause of paroxysmal exertion-induced dyskinesias and induce hemolytic anemia by a cation leak

scientific article

Gain-of-function HCN2 variants in genetic epilepsy.

scientific article published on 24 October 2017

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

scientific article published on 4 March 2017

Genetic testing in the epilepsies--report of the ILAE Genetics Commission

scientific article

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

scientific article

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

article

Heterogeneous contribution of microdeletions in the development of common generalised and focal epilepsies

scientific article published on 29 July 2017

Histopathological Findings in Brain Tissue Obtained during Epilepsy Surgery

scientific article published in October 2017

Intestinal-Cell Kinase and Juvenile Myoclonic Epilepsy

scientific article published on 01 April 2019

Molecular analysis of the A322D mutation in the GABA receptor alpha-subunit causing juvenile myoclonic epilepsy

scientific article

Mutations in CLCN2 encoding a voltage-gated chloride channel are associated with idiopathic generalized epilepsies

scientific article (publication date: April 2003)

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

Paroxysmal exercise-induced dyskinesia and epilepsy is due to mutations in SLC2A1, encoding the glucose transporter GLUT1.

scientific article

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

scientific article

Predicting functional effects of missense variants in voltage-gated sodium and calcium channels

scientific article published on 01 August 2020

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 25 January 2013

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

scientific article

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

scientific article

Reply

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

scientific article published on 21 March 2022

The LaLiMo Trial: lamotrigine compared with levetiracetam in the initial 26 weeks of monotherapy for focal and generalised epilepsy--an open-label, prospective, randomised controlled multicenter study

scientific article published on 17 May 2012

List of works by Holger Lerche

15q13.3 microdeletions increase risk of idiopathic generalized epilepsy

16p11.2 600 kb Duplications confer risk for typical and atypical Rolandic epilepsy

Analysis of shared heritability in common disorders of the brain

Axon initial segment dysfunction in a mouse model of genetic epilepsy with febrile seizures plus

Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutation

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 loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndrome

Drug-resistant epilepsy - time to target mechanisms

Early-onset absence epilepsy caused by mutations in the glucose transporter GLUT1.

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

Exon-disrupting deletions of NRXN1 in idiopathic generalized epilepsy

Exploration of the genetic architecture of idiopathic generalized epilepsies.

GLUT1 mutations are a cause of paroxysmal exertion-induced dyskinesias and induce hemolytic anemia by a cation leak

Gain-of-function HCN2 variants in genetic epilepsy.

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

Genetic testing in the epilepsies--report of the ILAE Genetics Commission

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

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

Heterogeneous contribution of microdeletions in the development of common generalised and focal epilepsies

Histopathological Findings in Brain Tissue Obtained during Epilepsy Surgery

Intestinal-Cell Kinase and Juvenile Myoclonic Epilepsy

Molecular analysis of the A322D mutation in the GABA receptor alpha-subunit causing juvenile myoclonic epilepsy

Mutations in CLCN2 encoding a voltage-gated chloride channel are associated with idiopathic generalized epilepsies

Mutations in GABRB3: From febrile seizures to epileptic encephalopathies.

Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes

Paroxysmal exercise-induced dyskinesia and epilepsy is due to mutations in SLC2A1, encoding the glucose transporter GLUT1.

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

Predicting functional effects of missense variants in voltage-gated sodium and calcium channels

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

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

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

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

Reply

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

The LaLiMo Trial: lamotrigine compared with levetiracetam in the initial 26 weeks of monotherapy for focal and generalised epilepsy--an open-label, prospective, randomised controlled multicenter study