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

Karsten Haug, Maike Warnstedt, Alexi K. Alekov, +22

Nature Genetics

GeneticsVoltage-gated Chloride ChannelIon ChannelsSystems BiologyMedicine +2

A Splice-Site Mutation in GABRG2 Associated With Childhood Absence Epilepsy and Febrile Convulsions

Colette Kananura, Karsten Haug, Thomas Sander, +6

Archives of Neurology

A Novel SCN1A Mutation Associated with Generalized Epilepsy with Febrile Seizures Plus—and Prevalence of Variants in Patients with Epilepsy

Andrew Escayg, Armin Heils, Bryan T. MacDonald, +3

The American Journal of Human Genetics

Generalized EpilepsyMendelian DisorderNeurological DisorderGenetic DisorderGenetics +5

In vivo activation of <i>SMN</i> in spinal muscular atrophy carriers and patients treated with valproate

Lars Brichta, Irmgard Hölker, Karsten Haug, +2

Annals of Neurology

Diagnostic accuracy of random massively parallel sequencing for non-invasive prenatal detection of common autosomal aneuploidies: a collaborative study in Europe

Markus Stümm, Michael Entezami, Karsten Haug, +17

Prenatal Diagnosis

Genetic TestingParallel SequencingCytogeneticsGeneticsGynecology +20

The voltage-gated sodium channel gene SCN2A and idiopathic generalized epilepsy

Karsten Haug, Kerstin Hallmann, Johannes Rebstock, +8

Epilepsy Research

ChannelopathiesHyperpolarization (Biology)NeurophysiologyGeneticsIon Channels +9

OFD II, OFD VI, and Joubert syndrome manifestations in 2 sibs

Karsten Haug, Saima Khan, Sigrun Fuchs, +1

American Journal of Medical Genetics

Familial Sotos syndrome caused by a novel missense mutation, C2175S, in NSD1 and associated with normal intelligence, insulin dependent diabetes, bronchial asthma, and lipedema

Ulrich Zechner, Nicolai Kohlschmidt, O. Kempf, +5

European Journal of Medical Genetics

Mendelian DisorderGenetic DisorderGeneticsInherited Metabolic DiseaseGenetic Epidemiology +8

The voltage-gated sodium channel β2-subunit gene and idiopathic generalized epilepsy

Karsten Haug, Thomas Sander, Kerstin Hallmann, +5

Neuroreport

No evidence for association between the KCNQ3 gene and susceptibility to idiopathic generalized epilepsy

Karsten Haug, Kerstin Hallmann, Steve Horvath, +8

Epilepsy Research

Generalized EpilepsyKcnq3 GeneMolecular NeuroscienceGeneticsNeurology +6