Abnormal cell sorting underlies the unique X-linked inheritance of PCDH19 Epilepsy
Daniel T. Pederick, Kay Richards, Sandra Piltz, Raman Kumar, Stefka Mincheva-Tasheva, Simone Alyson Mandelstam, Russell Clive Dale, Ingrid Eileen Scheffer, Jozef Gécz, Steven Petrou, James Nicholas Hughes, Paul Quinton Thomas
The paper shows that PCDH19 mutations in females cause abnormal cell sorting in the developing cortex, leading to epilepsy, while males are unaffected due to normal sorting.
Neuron · Jan 1, 2018Peer-reviewedDevelopmental Biology