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Case Report: KPTN Gene-Related Syndrome Associated with a Spectrum of Neurodevelopmental Anomalies Including Severe Epilepsy.

Svea Horn,Magdalena Danyel, Nina Erdmann,Felix Boschann,Cecilia Gunnarsson,Saskia Biskup,Jerome Juengling,Cornelia Potratz,Christine Prager,Angela M. Kaindl

Frontiers in Neurology（2023）

Cited 0|Views24
Key words
KPTN gene,macrocephaly,neurodevelopment delay,epilepsy,splice site variant
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