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. 2024 Aug 12;10(5):e200183. doi: 10.1212/NXG.0000000000200183

Figure 1. DEPDC5 Families and Genetic Findings.

Figure 1

(A) Flowchart of the investigated patients according to etiology, ictal respiratory findings (ICA), and genetic testing (NGS). (B) Pedigrees of families with the proband indicated by an arrow. Patients with a mutation are indicated by m/+, and patients negative for the mutation are indicated by +/+. (C) Schematic structure of the DEPDC5 gene (NM_001242896) with the position of sequence variants found in our patients. Variants indicated in black are nonsense or frameshift mutations while the variant in orange is predicted to alter mRNA splicing. FCD = focal cortical dysplasia; ICA = ictal central apnea; LEAT = low-grade epilepsy-related tumors; MCD = other malformations of cortical development; NGS = next-generation sequencing.