De novo hotspot variants in <i>CYFIP2</i> cause early‐onset epileptic encephalopathy

Mitsuko Nakashima, Mitsuhiro Kato, Kazushi Aoto, +16

Annals of Neurology

Revised consensus statement on the preventive and symptomatic care of patients with leukodystrophies

Laura Adang, Omar Sherbini, Laura J. Ball, +38

Molecular Genetics and Metabolism

MedicineRheumatologySymptomatic CareConsensus Statement

Utility of Whole Exome Sequencing for Genetic Diagnosis of Previously Undiagnosed Pediatric Neurology Patients

Maya Kuperberg, Dorit Lev, Lubov Blumkin, +7

Journal of Child Neurology

Paroxysmal tonic upward gaze as a presentation of de-novo mutations in CACNA1A

Lubov Blumkin, Esther Leshinsky‐Silver, Marina Michelson, +4

European Journal of Paediatric Neurology

BiologyDe-novo MutationsGenetic DisorderNatural SciencesGenetics +4

The molecular and phenotypic spectrum of <i><scp>IQSEC</scp>2</i>‐related epilepsy

Ayelet Zerem, Kazuhiro Haginoya, Dorit Lev, +26

Epilepsia

Heterozygous Mutations in the ADCK3 Gene in Siblings with Cerebellar Atrophy and Extreme Phenotypic Variability

Lubov Blumkin, Esther Leshinsky‐Silver, Ayelet Zerem, +3

JIMD Reports

Primary and maternal 3‐methylcrotonyl‐CoA carboxylase deficiency: insights from the Israel newborn screening program

Jonathan Rips, Shlomo Almashanu, Hanna Mandel, +9

Journal of Inherited Metabolic Disease

Paternal germline mosaicism of a SCN2A mutation results in Ohtahara syndrome in half siblings

Ayelet Zerem, Dorit Lev, Lubov Blumkin, +9

European Journal of Paediatric Neurology

Developmental BiologyGenetic DisorderGeneticsPaternal Germline MosaicismMolecular Genetics +5

Clinical phenotypes of infantile onset CACNA1A-related disorder

Tamar Gur-Hartman, Oren Berkowitz, Keren Yosovich, +23

European Journal of Paediatric Neurology

Genetic DisorderGeneticsClinical PhenotypesPediatricsAbnormal Development +2

Modified Delphi procedure-based expert consensus on endpoints for an international disease registry for Metachromatic Leukodystrophy: The European Metachromatic Leukodystrophy initiative (MLDi)

Daphne H. Schoenmakers, Shanice Beerepoot, Sibren van den Berg, +16

Orphanet Journal of Rare Diseases