Congenital myasthenic syndrome with mild intellectual disability caused by a recurrent SLC25A1 variant

Congenital Myasthenic Syndromes in 2018

(2018) Andrew G. Engel   Current Neurology and Neuroscience Reports

Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea

(2016) Stéphanie Bauché et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Identification of mutations in theMYO9Agene in patients with congenital myasthenic syndrome

(2016) Emily O’Connor et al.   BRAIN

Variants inSLC18A3, vesicular acetylcholine transporter, cause congenital myasthenic syndrome

(2016) Gina L. O'Grady et al.   NEUROLOGY

Mitochondrial disease in adults: what's old and what's new?

(2015) P. F. Chinnery   EMBO Molecular Medicine

Electrophysiologic features ofSYT2mutations causing a treatable neuromuscular syndrome

(2015) Roger G. Whittaker et al.   NEUROLOGY

Mutant SNAP25B causes myasthenia, cortical hyperexcitability, ataxia, and intellectual disability

(2014) X.-M. Shen et al.   NEUROLOGY

DPAGT1 myasthenia and myopathy: Genetic, phenotypic, and expression studies

(2014) D. Selcen et al.   NEUROLOGY

Deficiency in SLC25A1, Encoding the Mitochondrial Citrate Carrier, Causes Combined D-2- and L-2-Hydroxyglutaric Aciduria

(2013) Benjamin Nota et al.   AMERICAN JOURNAL OF HUMAN GENETICS