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

Brain (London, England : 1878), 2017-05, Vol.140 (5), p.1316-1336

2017

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A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy

American journal of human genetics, 2019-06, Vol.104 (6), p.1060-1072

2019

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Genome-wide mega-analysis identifies 16 loci and highlights diverse biological mechanisms in the common epilepsies

Nature communications, 2018-12, Vol.9 (1), p.5269-15, Article 5269

2018

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Genetic potassium channel-associated epilepsies: Clinical review of the Kv family

European journal of paediatric neurology, 2020-01, Vol.24, p.105-116

2020

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Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals

American journal of human genetics, 2019-08, Vol.105 (2), p.267-282

2019

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Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes

Nature genetics, 2013-09, Vol.45 (9), p.1067-1072

2013

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Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications

Brain (London, England : 1878), 2022-09, Vol.145 (9), p.2991-3009

2022

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Polygenic burden in focal and generalized epilepsies

Brain (London, England : 1878), 2019-11, Vol.142 (11), p.3473-3481

2019

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Real-life survey of pitfalls and successes of precision medicine in genetic epilepsies

Journal of neurology, neurosurgery and psychiatry, 2021-10, Vol.92 (10), p.1044

2021

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Gain-of-function variants in GABRD reveal a novel pathway for neurodevelopmental disorders and epilepsy

Brain (London, England : 1878), 2022-05, Vol.145 (4), p.1299-1309

2022

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4-Aminopyridine is a promising treatment option for patients with gain-of-function KCNA2 -encephalopathy

Science translational medicine, 2021-09, Vol.13 (609), p.eaaz4957

2021

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Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes

Nature genetics, 2014-12, Vol.46 (12), p.1327-1332

2014

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Intestinal-Cell Kinase and Juvenile Myoclonic Epilepsy

The New England journal of medicine, 2019-04, Vol.380 (16), p.e24-1028

2019

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De Novo Loss-of-Function Mutations in CHD2 Cause a Fever-Sensitive Myoclonic Epileptic Encephalopathy Sharing Features with Dravet Syndrome

American journal of human genetics, 2013-11, Vol.93 (5), p.967-975

2013

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GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture

Nature genetics, 2023-09, Vol.55 (9), p.1471-1482

2023

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Epilepsy subtype-specific copy number burden observed in a genome-wide study of 17 458 subjects

Brain (London, England : 1878), 2020-07, Vol.143 (7), p.2106-2118

2020

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Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals

American journal of human genetics, 2021-06, Vol.108 (6), p.965-982

2021

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Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals

Nature communications, 2023-07, Vol.14 (1), p.4392-4392, Article 4392

2023

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Genetic mechanisms in idiopathic epilepsies

Developmental medicine and child neurology, 2008-09, Vol.50 (9), p.648-654

2008

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Myoclonus epilepsy and ataxia due to KCNC1 mutation: Analysis of 20 cases and K+ channel properties

Annals of neurology, 2017-05, Vol.81 (5), p.677-689

2017

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Distinct gene-set burden patterns underlie common generalized and focal epilepsies

EBioMedicine, 2021-10, Vol.72, p.103588-103588, Article 103588

2021

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

Nature genetics, 2003-04, Vol.33 (4), p.527-532

2003

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Proposal for a “phase II” multicenter trial model for preclinical new antiepilepsy therapy development

Epilepsia (Copenhagen), 2013-08, Vol.54 (s4), p.70-74

2013

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KollektionElsevier Journal Backfiles on ScienceDirect (DFG Nationallizenzen)

ThemaPhysical Sciences

ThemaPhysics, Applied

SpracheEnglisch

ThemaEpilepsy

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Incidence and mechanisms of cardiorespiratory arrests in epilepsy monitoring units (MORTEMUS): a retrospective study

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

A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy

Genome-wide mega-analysis identifies 16 loci and highlights diverse biological mechanisms in the common epilepsies

Genetic potassium channel-associated epilepsies: Clinical review of the Kv family

Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals

Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes

Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications

Polygenic burden in focal and generalized epilepsies

Real-life survey of pitfalls and successes of precision medicine in genetic epilepsies

Gain-of-function variants in GABRD reveal a novel pathway for neurodevelopmental disorders and epilepsy

4-Aminopyridine is a promising treatment option for patients with gain-of-function KCNA2 -encephalopathy

Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes

Biological concepts in human sodium channel epilepsies and their relevance in clinical practice

Intestinal-Cell Kinase and Juvenile Myoclonic Epilepsy

De Novo Loss-of-Function Mutations in CHD2 Cause a Fever-Sensitive Myoclonic Epileptic Encephalopathy Sharing Features with Dravet Syndrome

GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture

Epilepsy subtype-specific copy number burden observed in a genome-wide study of 17 458 subjects

Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals

Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals

Genetic mechanisms in idiopathic epilepsies

Myoclonus epilepsy and ataxia due to KCNC1 mutation: Analysis of 20 cases and K+ channel properties

Distinct gene-set burden patterns underlie common generalized and focal epilepsies

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

Proposal for a “phase II” multicenter trial model for preclinical new antiepilepsy therapy development

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