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

Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes

Elena Parrini, Carla Marini, Davide Mei, +15

Human Mutation

The phenotype of <i>SCN8A</i> developmental and epileptic encephalopathy

Elena Gardella, Carla Marini, Marina Trivisano, +25

Neurology

<i>GNAO1</i> encephalopathy

Federica Rachele Danti, Serena Galosi, Marta Romani, +18

Neurology Genetics

Delineating SPTAN1 associated phenotypes: from isolated epilepsy to encephalopathy with progressive brain atrophy

Steffen Syrbe, Frederike L. Harms, Elena Parrini, +41

Brain

NeurogenomicsBrain DevelopmentNeurological DisorderGeneticsNeurochemical Biomarkers +21

Defective mitochondrial rRNA methyltransferase MRM2 causes MELAS-like clinical syndrome

Caterina Garone, Aaron R. D’Souza, Cristina Dallabona, +13

Human Molecular Genetics

Mitochondrial ProteomeMendelian DisorderMitochondrial BiogenesisMitochondrial FunctionGenetic Disorder +11

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

Joshua E. Motelow, Gundula Povysil, Ryan S. Dhindsa, +249

The American Journal of Human Genetics

Mendelian DisorderFemale InfertilityWhole-exome Sequencing StudyGenetic DisorderGenetics +7

NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns

Hannah Stamberger, Trine Bjørg Hammer, Elena Gardella, +82

Genetics in Medicine

Nexmif EncephalopathyMendelian DisorderFragile X SpectrumPathologyFemale Phenotypic Patterns +6

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

Simona Balestrini, Daniela Chiarello, Katri Silvennoinen, +23

Journal of Neurology Neurosurgery & Psychiatry

Clinical and genetic spectrum of AMPD2-related pontocerebellar hypoplasia type 9

Fanny Kortüm, Rami Abou Jamra, Malik Alawi, +15

European Journal of Human Genetics

Genetic DisorderGeneticsNeurologyGenetic SpectrumNeuropathology +1