Genetic and phenotypic spectrum associated with IFIH1 gain‐of‐function

Gillian Rice, Sehoon Park, Francesco Gavazzi, +60

Human Mutation

Medical Cannabis for Pediatric Moderate to Severe Complex Motor Disorders

Stéphanie Libzon, Lihi Bar‐Lev Schleider, Naama Saban, +5

Journal of Child Neurology

Pain DisordersComplex Motor DisorderCannabinoid PharmacologyCannabis LegalizationAddiction Medicine +21

Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia

Darius Ebrahimi‐Fakhari, Julian Teinert, Robert Behne, +85

Brain

Mutation in the AP4B1 gene cause hereditary spastic paraplegia type 47 (SPG47)

Peter Bauer, Esther Leshinsky‐Silver, Lubov Blumkin, +6

Neurogenetics

Genetic DisorderGeneticsMolecular BiologyMolecular GeneticsDisease Gene Identification +1

A compound heterozygous missense mutation and a large deletion in the KCTD7 gene presenting as an opsoclonus-myoclonus ataxia-like syndrome

Lubov Blumkin, Sara Kivity, Dorit Lev, +4

Journal of Neurology

Mendelian DisorderGenetic DisorderMedicineGeneticsPathology +8

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

Congenital Ataxia, Mental Retardation, and Dyskinesia Associated With a Novel CACNA1A Mutation

Lubov Blumkin, Marina Michelson, Esther Leshinsky‐Silver, +3

Journal of Child Neurology

Pediatric Refractory Partial Status Epilepticus Responsive to Topiramate

Lubov Blumkin, Tally Lerman‐Sagie, Tzion Houri, +4

Journal of Child Neurology

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

Expansion of the spectrum of TUBB4A-related disorders: a new phenotype associated with a novel mutation in the TUBB4A gene

Lubov Blumkin, Ayelet Halevy, Dominique Ben-Ami-Raichman, +7

Neurogenetics

Tubb4a GeneNew PhenotypeTubb4a-related DisordersMendelian DisorderGenetic Disorder +6