<i>FGF12</i> copy number variant associated with epileptic encephalopathy-Reference-Cited by-同舟云学术

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FGF12 copy number variant associated with epileptic encephalopathy

Published:2024-05-08 Issue:1 Volume:106 Page:114-115
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clinical Genetics

Author:

Abraham Anna¹²,Ramsey Keri¹²,Belnap Newell¹²,Szelinger Szabolcs¹²,Jepsen Wayne¹²^ORCID,Balak Chris¹²,Sanchez‐Castillo Meredith¹²,Naymik Marcus¹²,Bonfitto Anna¹²,Rangasamy Sampathkumar¹²,Kruglyak Semyon³,Huentelman Matthew¹²,Narayanan Vinodh¹²^ORCID

Affiliation:

1. Center for Rare Childhood Disorders Translational Genomics Research Institute Phoenix Arizona USA

2. Neurogenomics Division Translational Genomics Research Institute Phoenix Arizona USA

3. Element Biosciences San Diego California USA

Publisher

Wiley

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.14542

Reference5 articles.

1. Phenytoin-responsive epileptic encephalopathy with a tandem duplication involving FGF12

2. Entire FGF12 duplication by complex chromosomal rearrangements associated with West syndrome

3. Childhood-onset epileptic encephalopathy due to FGF12 exon 1–4 tandem duplication

4. Epilepsy phenotype in individuals with chromosomal duplication encompassing FGF12

5. Modulating effects of FGF12 variants on NaV1.2 and NaV1.6 being associated with developmental and epileptic encephalopathy and Autism spectrum disorder: A case series

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