OBJECTIVE
To identify the molecular basis of a fatal syndrome of microcephaly, cortical hyperexcitability, and myasthenia.
METHODS
We performed clinical and in vitro microelectrode studies of neuromuscular transmission, examined neuromuscular junctions cytochemically and by electron microscopy (EM), and searched for mutations by Sanger and exome sequencing.
RESULTS
Neuromuscular transmissio...
