Last Posted: Nov 24, 2020
- Clinical sequencing yield in epilepsy, autism spectrum disorder, and intellectual disability: A systematic review and meta-analysis.
Stefanski Arthur et al. Epilepsia 2020 Nov
- No association between SCN9A and monogenic human epilepsy disorders.
Fasham James et al. PLoS genetics 2020 Nov 16(11) e1009161
- Precision Medicine: Academic dreaming or clinical reality?
Josephson Colin B et al. Epilepsia 2020 Nov
- Clinical and genetic characteristics and prenatal diagnosis of patients presented GDD/ID with rare monogenic causes.
Lin Liling et al. Orphanet journal of rare diseases 2020 Nov 15(1) 317
- Revisiting the clinical impact of variants in EFHC1 in patients with different phenotypes of genetic generalized epilepsy.
Gonsales Marina C et al. Epilepsy & behavior : E&B 2020 Nov 112107469
- Association of KCNJ10 variants and the susceptibility to clinical epilepsy.
Jiang Chuan et al. Clinical neurology and neurosurgery 2020 Oct 106340
- Methyl-CpG-binding protein 2 gene mutations and its association with epilepsy: a single centre study from the Indian subcontinent.
Kamdar Payal et al. Journal of genetics 2020 99
- Current Insights in Elucidation of Possible Molecular Mechanisms of the Juvenile Form of Batten Disease.
Shematorova Elena K et al. International journal of molecular sciences 2020 Oct 21(21)
- Rapid whole genome sequencing identifies a homozygous novel variant, His540Arg, in HSD17B4 resulting in D-bifunctional protein deficiency disorder diagnosis.
Savage Lane T et al. Cold Spring Harbor molecular case studies 2020 Oct
- Genetic Diagnosis of Dravet Syndrome Using Next Generation Sequencing-Based Epilepsy Gene Panel Testing.
Lee Jiwon et al. Annals of clinical and laboratory science 2020 Sep 50(5) 625-637
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