Varaico: Literature-Extracted Genetic Variants

Gene:CDKL5
Variant:p.P530_R534delFs
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CDKL5

NM_001323289.2:p.P530_R534delFs

Associated Papers

Association of early-onset epileptic encephalopathy with involuntary movements - Case series and literature review.

Arisaka A et al.

Epilepsy & Behavior Reports, 2021

Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy.

Takata A et al.

Nature Communications, 2019

31175295 (PubMed )
Supplement: 41467_2019_10482_MOESM5_ESM.xlsx › Supplementary_Data_2

High prevalence of genetic alterations in early-onset epileptic encephalopathies associated with infantile movement disorders.

Kobayashi Y et al.

Brain & Development, 2016

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."