Varaico: Literature-Extracted Genetic Variants

Gene:NIPA2
Variant:p.N244S
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NIPA2

NM_030922.7:p.N244S

Associated Papers

Prader-Willi Syndrome and Chromosome 15q11.2 BP1-BP2 Region: A Review.

Butler MG

International Journal of Molecular Sciences, 2023

Prader-Willi syndrome, deletion subtypes, and magnesium: Potential impact on clinical findings.

Butler MG et al.

American Journal of Medical Genetics. Part A, 2022

The absence of NIPA2 enhances neural excitability through BK (big potassium) channels.

Liu NN et al.

Cns Neuroscience & Therapeutics, 2019

Magnesium Supplement and the 15q11.2 BP1-BP2 Microdeletion (Burnside-Butler) Syndrome: A Potential Treatment?

Butler MG

International Journal of Molecular Sciences, 2019

Does variation in NIPA2 contribute to genetic generalized epilepsy?

Hildebrand MS et al.

Human Genetics, 2014

Functional study of NIPA2 mutations identified from the patients with childhood absence epilepsy.

Xie H et al.

Plos One, 2014

NIPA2 located in 15q11.2 is mutated in patients with childhood absence epilepsy.

Jiang Y et al.

Human Genetics, 2012

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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."