Varaico: Literature-Extracted Genetic Variants

Gene:CDKL5
Variant:p.G597delFs
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CDKL5

NM_001323289.2:p.G597delFs

Associated Papers

A Novel Mouse Model Unveils Protein Deficiency in Truncated CDKL5 Mutations.

Feng X et al.

Neuroscience Bulletin, 2025

Bipolar Disorder in a female with CDKL5 Deficiency Disorder: A Case Report.

Lucash J et al.

Research Square, 2024

Use of the ketogenic diet to manage refractory epilepsy in CDKL5 disorder: Experience of >100 patients.

Lim Z et al.

Epilepsia, 2017

There is variability in the attainment of developmental milestones in the CDKL5 disorder.

Fehr S et al.

Journal of Neurodevelopmental Disorders, 2015

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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."