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Neurology Genetics
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Notable This Week

February 2021; 7(1) Selected by Stefan M. Pulst, MD, Dr med, Editor

CLINICAL NOTE |Amyotrophic Lateral Sclerosis
Possible Somatic Mosaicism of Novel FUS Variant in Familial Amyotrophic Lateral Sclerosis
ARTICLE |Amyotrophic Lateral Sclerosis
Does Somatic Mosaicism Account for Some Sporadic ALS?
ARTICLE |CEDNIK Syndrome
New Cohort of Patients With CEDNIK Syndrome Expands the Phenotypic and Genotypic Spectra
ARTICLE |Ataxia
V374A KCND3 Pathogenic Variant Associated With Paroxysmal Ataxia Exacerbations
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  • Clinical/Scientific Notes
    NR4A2 Mutations Can Cause Intellectual Disability and Language Impairment With Persistent Dystonia-Parkinsonism
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    January 21, 2021
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    Possible Somatic Mosaicism of Novel FUS Variant in Familial Amyotrophic Lateral Sclerosis
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    January 12, 2021
  • Article
    New Cohort of Patients With CEDNIK Syndrome Expands the Phenotypic and Genotypic Spectra
    Annelise Y. Mah-Som, Cristina Skrypnyk, Andrea Guerin, et al.
    January 12, 2021
  • Editorial
    Does Somatic Mosaicism Account for Some Sporadic ALS?
    Éanna B. Ryan, Han-Xiang Deng
    January 12, 2021
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Neurology: Genetics
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  • Blended Phenotype of Silver-Russell Syndrome and SPG50 Caused by Maternal Isodisomy of Chromosome 7
  • Mutation in POLR3K causes hypomyelinating leukodystrophy and abnormal ribosomal RNA regulation
  • Genotype-phenotype correlations in patients with de novo KCNQ2 pathogenic variants
  • New recessive mutations in SYT2 causing severe presynaptic congenital myasthenic syndromes
  • Practical guidelines to manage discordant situations of SMN2 copy number in patients with spinal muscular atrophy
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