NewSMARCA2mutation in a patient with Nicolaides-Baraitser syndrome and myoclonic astatic epilepsy

Mutations in the GABA Transporter SLC6A1 Cause Epilepsy with Myoclonic-Atonic Seizures

(2015) Gemma L. Carvill et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin–Siris and Nicolaides–Baraitser syndromes

(2015) Nuria C. Bramswig et al.   HUMAN GENETICS

Phenotype and genotype in Nicolaides-Baraitser syndrome

(2014) Sérgio B. Sousa et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

The role of BAF (mSWI/SNF) complexes in mammalian neural development

(2014) Esther Y. Son et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Coffin-Siris syndrome is a SWI/SNF complex disorder

(2013) Y. Tsurusaki et al.   CLINICAL GENETICS

Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1

(2013) Gemma L Carvill et al.   NATURE GENETICS

Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome

(2012) Jeroen K J Van Houdt et al.   NATURE GENETICS

Glucose Transporter 1 Deficiency as a Treatable Cause of Myoclonic Astatic Epilepsy

(2011) Saul A. Mullen   ARCHIVES OF NEUROLOGY