Skip to content
Log in
Sponsored AI AM CLAUDE, A Beginner's Guide: Learn the basics of working with AI AI AM CLAUDE, A Beginner's Guide: Learn the basics of working with AI

Author

N. Elkhateeb

h-index 7 View on Semantic Scholar

We have 2 of 36 papers

We haven’t gathered this author’s papers yet. Follow them and we’ll fetch their work.

Not the right person? Other researchers publish under this name.

Sep 2026

Bi-allelic GAD2 variants cause a rare developmental encephalopathy with early-onset seizures.

PURPOSE GAD67 and GAD65, encoded by GAD1 and GAD2, respectively, are the two isoforms of glutamic acid decarboxylase (GAD), the enzyme responsible for γ-aminobutyric acid (GABA) synthesis. Pathogenic variants in GAD1 cause a severe developmental and epileptic encephalopathy, whereas GAD2 has not previously been implica...

Mathijs B. van der Lei, Matthias De Wachter, C. D'Incal et al. · 0 citations
Jul 2026

Heterozygous RNF13 Truncating Variants Are Associated With Developmental and Epileptic Encephalopathy.

A case series of an additional 13 affected individuals with RNF13 variants (2 missense, 11 truncating) supports and broadens previous reports and helps to define a narrow but critical region of the protein that is intolerant to truncating variation, although the gene is not highly constrained.

D. Latner, S. Hiatt, C. Finnila et al. · 0 citations

We use cookies to run the site and, with your consent, for analytics and to show ads. See our Cookie Policy.