Electroclinical features of MEF2C haploinsufficiency-related epilepsy: A multicenter European study

MEF2C-related epilepsy: Delineating the phenotypic spectrum from a novel mutation and literature review

(2019) Felippe Borlot et al.   SEIZURE-EUROPEAN JOURNAL OF EPILEPSY

Identifying common genome-wide risk genes for major psychiatric traits

(2019) Sha Liu et al.   HUMAN GENETICS

Expanding the clinical and molecular findings in RASA1 capillary malformation-arteriovenous malformation

(2018) Whitney L. Wooderchak-Donahue et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Novel MEF2C point mutations in Chinese patients with Rett (−like) syndrome or non-syndromic intellectual disability: insights into genotype-phenotype correlation

(2018) Jiaping Wang et al.   BMC Medical Genetics

ADGRV1 is implicated in myoclonic epilepsy

(2017) Kenneth A. Myers et al.   EPILEPSIA

ILAE classification of the epilepsies: Position paper of the ILAE Commission for Classification and Terminology

(2017) Ingrid E. Scheffer et al.   EPILEPSIA

Prenatal detection of 5q14.3 duplication includingMEF2Cand brain phenotype

(2016) Claudia Cesaretti et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

MEF2C haploinsufficiency syndrome: Report of a new MEF2C mutation and review

(2016) Helena Rocha et al.   European Journal of Medical Genetics

Dysregulation of miRNA-9 in a Subset of Schizophrenia Patient-Derived Neural Progenitor Cells

(2016) Aaron Topol et al.   Cell Reports

Endothelin signaling activates Mef2c expression in the neural crest through a MEF2C-dependent positive-feedback transcriptional pathway

(2015) J. Hu et al.   DEVELOPMENT

Molecular characterization of a cohort of 73 patients with infantile spasms syndrome

(2015) Nadia Boutry-Kryza et al.   European Journal of Medical Genetics

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

MEF2C deletions and mutations versus duplications: A clinical comparison

(2013) Francesca Novara et al.   European Journal of Medical Genetics

MEF2C Haploinsufficiency features consistent hyperkinesis, variable epilepsy, and has a role in dorsal and ventral neuronal developmental pathways

(2013) Alex R. Paciorkowski et al.   NEUROGENETICS

An intellectually disabled patient with the 5q14.3q15 microdeletion syndrome associated with an apparently de novo t(2;5)(q13;q14)

(2012) Jaime Toral-López et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

De novo microdeletion of 5q14.3 excludingMEF2Cin a patient with infantile spasms, microcephaly, and agenesis of the corpus callosum

(2012) Keiko Shimojima et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

De novo 5q14.3 translocation 121.5-kb upstream of MEF2C in a patient with severe intellectual disability and early-onset epileptic encephalopathy

(2011) Hirotomo Saitsu et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Refining the phenotype associated withMEF2Chaploinsufficiency

(2010) F Novara et al.   CLINICAL GENETICS

Mutations in MEF2C from the 5q14.3q15 microdeletion syndrome region are a frequent cause of severe mental retardation and diminish MECP2 and CDKL5 expression

(2010) Markus Zweier et al.   HUMAN MUTATION

A novel microdeletion syndrome involving 5q14.3-q15: clinical and molecular cytogenetic characterization of three patients

(2009) Hartmut Engels et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

MEF2C haploinsufficiency caused by either microdeletion of the 5q14.3 region or mutation is responsible for severe mental retardation with stereotypic movements, epilepsy and/or cerebral malformations

(2009) N. Le Meur et al.   JOURNAL OF MEDICAL GENETICS

Two patients with balanced translocations and autistic disorder: CSMD3 as a candidate gene for autism found in their common 8q23 breakpoint area

(2008) Chiara Floris et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Periventricular heterotopia, mental retardation, and epilepsy associated with 5q14.3-q15 deletion

(2008) C. Cardoso et al.   NEUROLOGY