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Article

A novel homozygous SLC13A5 whole-gene deletion generated by Alu/Alu-mediated rearrangement in an Iraqi family with epileptic encephalopathy.

American journal of medical genetics. Part A - 1 Jul 2021

Duan Ruizhi, Saadi Nebal Waill, Grochowski Christopher M, Bhadila Ghalia, Faridoun Afnan, Mitani Tadahiro, Du Haowei, Fatih Jawid M, Jhangiani Shalini N, Akdemir Zeynep C, Gibbs Richard A, Pehlivan Davut, Posey Jennifer E, Marafi Dana, Lupski James R

Abstract excerpt

Biallelic loss-of-function (LoF) of SLC13A5 (solute carrier family 13, member 5) induced deficiency in sodium/citrate transporter (NaCT) causes autosomal recessive developmental epileptic encephalopathy 25 with hypoplastic amelogenesis imperfecta (DEE25; MIM #615905). Many pathogenic SLC13A5 single nucleotide variants (SNVs) and small indels have been described; however, no cases with copy number variants (CNVs)...

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Share to Alu Elements
Share to Chromosomes, Human, Pair 17

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 33797191
DOI: 10.1002/ajmg.a.62192
PMCID: PMC8445493

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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