Paper Details

Paper Title

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

Paper Journal Title

Am J Med Genet A

Paper Citation Count

Paper Publication Year

2021

Bio Mention

88, AI, Alu, Chr17p13, DEE25, GDD, ID, NaCT, SLC13A5, SLC13A5 single, SLC13A5 single nucleotide variants, SLC13A5 whole-gene deletion, SNVs, autosomal recessive developmental epileptic encephalopathy 25, citrate, deficiency in sodium/citrate transporter, dental abnormalities, epileptic encephalopathy, global developmental delay, hypoplastic amelogenesis imperfecta, intellectual disability, neonatal-onset epilepsy, sodium, solute carrier family 13, member 5, status epilepticus

Mesh Descriptor

Author Name	Affiliation
Shalini N Jhangiani	Baylor College of Medicine
Zeynep Coban Akdemir	Baylor College of Medicine
Richard A Gibbs	Baylor College of Medicine
Richard A Gibbs	Baylor College of Medicine
Richard A Gibbs	Baylor College of Medicine
Richard A Gibbs	Baylor College of Medicine
Jennifer E Posey	Baylor College of Medicine
James R Lupski	Baylor College of Medicine
James R Lupski	Baylor College of Medicine
James R Lupski	Texas Children's Hospital
James R Lupski	Baylor College of Medicine
James R Lupski	Baylor College of Medicine
James R Lupski	Baylor College of Medicine
James R Lupski	Texas Children's Hospital
James R Lupski	Baylor College of Medicine

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