Dravet syndrome and Dravet syndrome-like phenotype: a systematic review of the SCN1A and PCDH19 variants.
- Published in:
- Neurogenetics, 2021, v. 22, n. 2, p. 105, doi. 10.1007/s10048-021-00644-7
- By:
- Publication type:
- Article
Works matching IS 13646745 AND DT 2021 AND VI 22 AND IP 2
Results: 7
1
2
A novel pathogenic variant in the 3ʹ end of the AGTPBP1 gene gives rise to neurodegeneration without cerebellar atrophy: an expansion of the disease phenotype?
- Published in:
- Neurogenetics, 2021, v. 22, n. 2, p. 127, doi. 10.1007/s10048-021-00643-8
- By:
- Publication type:
- Article
3
Evidence for pathogenicity of variant ATM Val1729Leu in a family with ataxia telangiectasia.
- Published in:
- Neurogenetics, 2021, v. 22, n. 2, p. 143, doi. 10.1007/s10048-021-00639-4
- By:
- Publication type:
- Article
4
Welcoming articles on genotype-dependent clinical features and diagnostics.
- Published in:
- 2021
- By:
- Publication type:
- Editorial
5
Myoclonic dystonia phenotype related to a novel calmodulin-binding transcription activator 1 sequence variant.
- Published in:
- Neurogenetics, 2021, v. 22, n. 2, p. 137, doi. 10.1007/s10048-021-00637-6
- By:
- Publication type:
- Article
6
De novo homozygous variant of the SCN1A gene in a patient with severe Dravet syndrome complicated by acute encephalopathy.
- Published in:
- Neurogenetics, 2021, v. 22, n. 2, p. 133, doi. 10.1007/s10048-021-00636-7
- By:
- Publication type:
- Article
7
Multi-system neurological disorder associated with a CRYAB variant.
- Published in:
- Neurogenetics, 2021, v. 22, n. 2, p. 117, doi. 10.1007/s10048-021-00640-x
- By:
- Publication type:
- Article