<i>KCNQ2</i> encephalopathy: Emerging phenotype of a neonatal epileptic encephalopathy

Sarah Weckhuysen, Simone Mandelstam, Arvid Suls, +20

Annals of Neurology

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

Arvid Suls, Peter Dedeken, Karolien Goffin, +24

Brain

Neurological DisorderGlucose UptakeSocial SciencesGenetic AnalysisParoxysmal Exercise-induced Dyskinesia +14

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

Arvid Suls, Saul A. Mullen, Yvonne Weber, +12

Annals of Neurology

Absence EpilepsiesEarly-onset Absence EpilepsyEarly‐onset Absence EpilepsyGeneticsGenetic Epidemiology +15

Molecular correlates of age-dependent seizures in an inherited neonatal-infantile epilepsy

Yunxiang Liao, Liesbet Deprez, Snezana Maljevic, +13

Brain

Clinical spectrum of early-onset epileptic encephalopathies associated with <i>STXBP1</i> mutations

Liesbet Deprez, Sarah Weckhuysen, Philip Holmgren, +14

Neurology

A novel <i>GABRG2</i> mutation associated with febrile seizures

Dominique Audenaert, E Schwartz, Kristl G. Claeys, +8

Neurology

Reduced Benzodiazepine EnhancementMendelian DisorderNeurophysiologyMedicineGenetics +12

The<i>SCN1A</i>variant database: a novel research and diagnostic tool

Lieve Claes, Liesbet Deprez, Arvid Suls, +6

Human Mutation

Microdeletions involving theSCN1A gene may be common inSCN1A-mutation-negative SMEI patients

Arvid Suls, Kristl G. Claeys, D. Goossens, +17

Human Mutation

Epilepsy as part of the phenotype associated with <i>ATP1A2</i> mutations

Liesbet Deprez, Sarah Weckhuysen, Katelijne Peeters, +9

Epilepsia

Synaptic PlasticityMolecular NeuroscienceGenetic DisorderGeneticsMolecular Genetics +12

Assessment of Digital PCR as a Primary Reference Measurement Procedure to Support Advances in Precision Medicine

Alexandra S. Whale, Gerwyn M. Jones, Jernej Pavšič, +24

Clinical Chemistry