Svea Horn Magdalena Danyel Nina Erdmann Felix Boschann Cecilia Gunnarsson Saskia Biskup Jerome Juengling Cornelia Potratz Christine Prager Angela M Kaindl
10.3389/fneur.2022.1113811
Front Neurol
2023 Jan 10;13:1113811.
kptn gene epilepsy macrocephaly neurodevelopment delay splice site variant
CC BY
https://pubmed.ncbi.nlm.nih.gov/36703628/
Case Reports
PMC9871926
36703628
Case report: KPTN gene-related syndrome associated with a spectrum of neurodevelopmental anomalies including severe epilepsy
2023