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