Self-limited focal epilepsy and childhood apraxia of speech with WAC pathogenic variants

Alawadhi, A; Morgan, AT; Mucha, BE; Scheffer, IE; Myers, KA

Myers, KA (corresponding author), Montreal Childrens Hosp, MUHC GLEN Site,1001 Decarie Blvd, Montreal, PQ H4A 3J1, Canada.

EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY, 2021; 30 (): 25

Abstract

Heterozygous pathogenic WAC variants cause Desanto-Shinawi syndrome; affected patients have dysmorphic features, developmental impairment and behavior......

Full Text Link