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

Yen‐Chen Anne Feng, Daniel P. Howrigan, Liam Abbott, +234

The American Journal of Human Genetics

Allelic VariantUltra-rare Genetic VariationWhole-exome Sequencing StudyGeneticsGenetic Disorder +8

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

Arvid Suls, Johanna A. Jaehn, Angéla Kecskés, +63

The American Journal of Human Genetics

Chd2 CauseDravet SyndromeMolecular NeuroscienceNeurobiology Of DiseaseGenetic Disorder +6

Genetic and neurodevelopmental spectrum of <i>SYNGAP1</i>-associated intellectual disability and epilepsy

Cyril Mignot, Celina von Stülpnagel, Caroline Nava, +33

Journal of Medical Genetics

Defects in amphiphysin 2 (BIN1) and triads in several forms of centronuclear myopathies

Anne Toussaint, Belinda S. Cowling, Karim Hnia, +12

Acta Neuropathologica

ChromatinGeneticsMolecular BiologyMolecular GeneticsCentronuclear Myopathies +3

Phenotypic variability of the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA): clinical, molecular and biochemical delineation

Marianne Rohrbach, Anthony Vandersteen, Uluç Yiş, +10

Orphanet Journal of Rare Diseases

Neurodevelopmental Disorders Caused by De Novo Variants in <i>KCNB1 </i>Genotypes and Phenotypes

Carolien G. F. de Kovel, Steffen Syrbe, Eva H. Brilstra, +32

JAMA Neurology

Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome

Shereen G. Ghosh, Kerstin Becker, He Huang, +36

The American Journal of Human Genetics

Biallelic MutationsGenetic DisorderEncoding Adp-ribosylhydrolase 3GeneticsInherited Metabolic Disease +3

Megalencephalic leukoencephalopathy with subcortical cysts

Eline M. Hamilton, Pınar Tektürk, Fia Cialdella, +109

Neurology

Hyperoxic exposure leads to cell death in the developing brain

Uluç Yiş, Semra Hız Kurul, Abdullah Kumral, +4

Brain and Development

Brain DevelopmentHyperoxic ExposurePhysiologyApoptosisDevelopmental Toxicology +11

Metoclopramide induced dystonia in children: two case reports

Uluç Yiş, Durgül Özdemir, Murat Duman, +1

European Journal of Emergency Medicine

Drug SafetyPharmacologyPediatricsGastroenterologyDopamine Antagonist +9