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

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

Refining the phenotype associated with MEF2C point mutations

(2012) Thierry Bienvenu et al.   NEUROGENETICS

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

Interstitial deletion 5q14.3q21.3 with MEF2C haploinsufficiency and mild phenotype: When more is less

(2011) Vijay Tonk et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

5q14.3 neurocutaneous syndrome: A novel continguous gene syndrome caused by simultaneous deletion of RASA1 and MEF2C

(2011) Christopher W. Carr et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Clinically relevant single gene or intragenic deletions encompassing critical neurodevelopmental genes in patients with developmental delay, mental retardation, and/or autism spectrum disorders

(2011) Fady M. Mikhail et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Functional Gene Expression Analysis of Tissue-Specific Isoforms of Mef2c

(2011) Yoshiharu Sekiyama et al.   CELLULAR AND MOLECULAR NEUROBIOLOGY

The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis

(2011) F. Kortum et al.   JOURNAL OF MEDICAL GENETICS

Rett syndrome: Revised diagnostic criteria and nomenclature

(2010) Jeffrey L. Neul et al.   ANNALS OF NEUROLOGY

Late-onset gain of skills and peculiar jugular pit in an 11-year-old girl with 5q14.3 microdeletion including MEF2C

(2010) Siren Berland et al.   CLINICAL DYSMORPHOLOGY

Refining the phenotype associated withMEF2Chaploinsufficiency

(2010) F Novara et al.   CLINICAL GENETICS

Duplications of FOXG1 in 14q12 are associated with developmental epilepsy, mental retardation and severe speech impairment

(2010) Nicola Brunetti-Pierri et al.   EUROPEAN JOURNAL OF HUMAN 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

Definition and classification of hyperkinetic movements in childhood

(2010) Terence D. Sanger et al.   MOVEMENT DISORDERS

Fragile X Mental Retardation Protein Is Required for Synapse Elimination by the Activity-Dependent Transcription Factor MEF2

(2010) Brad E. Pfeiffer et al.   NEURON

Tbr1 regulates regional and laminar identity of postmitotic neurons in developing neocortex

(2010) F. Bedogni et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Dlx1&2 and Mash1 Transcription Factors Control MGE and CGE Patterning and Differentiation through Parallel and Overlapping Pathways

(2009) Jason E. Long et al.   CEREBRAL CORTEX

Identification of a previously unrecognized microdeletion syndrome of 16q11.2q12.2

(2009) BC Ballif et al.   CLINICAL GENETICS

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

The organization of the transcriptional network in specific neuronal classes

(2009) Kellen D Winden et al.   Molecular Systems Biology

Gene Expression in Cortical Interneuron Precursors is Prescient of their Mature Function

(2008) Renata Batista-Brito et al.   CEREBRAL CORTEX

FACS-array gene expression analysis during early development of mouse telencephalic interneurons

(2008) Eric D. Marsh et al.   Developmental Neurobiology

Identification of Arx transcriptional targets in the developing basal forebrain

(2008) Carl T. Fulp et al.   HUMAN MOLECULAR GENETICS

Myocyte Enhancer Factor 2C as a Neurogenic and Antiapoptotic Transcription Factor in Murine Embryonic Stem Cells

(2008) Z. Li et al.   JOURNAL OF NEUROSCIENCE

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

(2008) C. Cardoso et al.   NEUROLOGY

Movement Disorder-Childhood Rating Scale: Reliability and Validity

(2008) Roberta Battini et al.   PEDIATRIC NEUROLOGY

Transcription factor MEF2C influences neural stem/progenitor cell differentiation and maturation in vivo

(2008) H. Li et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

MEF2C, a transcription factor that facilitates learning and memory by negative regulation of synapse numbers and function

(2008) A. C. Barbosa et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

MeCP2, a Key Contributor to Neurological Disease, Activates and Represses Transcription

(2008) M. Chahrour et al.   SCIENCE