De novo KCNA1 variants in the PVP motif cause infantile epileptic encephalopathy and cognitive impairment similar to recurrent KCNA2 variants

American Journal of Medical Genetics Part A, EarlyView.

Source: American Journal of Medical Genetics Part A - July 28, 2018 Category: Genetics & Stem Cells Authors: AmandaRogers , PaulGolumbek , ElenaCellini , ViolaDoccini , RenzoGuerrini , CarinaWallgren ‐Pettersson , Ann‐CharlotteThuresson , Christina A.Gurnett Source Type: research