One family previously reported with a homozygous SNX27 frameshift variant (c.515_516del;p.His172Argfs*6), exhibited infantile intractable myoclonic epilepsy, axial hypotonia, startle-like movements, cardiac septal defects, global developmental delay, failure to thrive, recurrent chest infections, persistent hypoxemia and early death secondary to respiratory failure.
Here we describe a child with intractable myoclonic epilepsy and autism spectrum disorder who carries an inherited mutation in SCN1A (c.3521C>G, p.T1174S).