MEF2C‐related disorders (aka MEF2C‐haploinsufficiency) are caused by variations in or
involving the MEF2C gene and are characterized by intellectual disability, developmental …

Introduction MEF2C‐related disorders are characterized by developmental and cognitive
delay, limited language and walking, hypotonia, and seizures. A recent systematic review …

Up to now, only five-point mutations in the MEF2C gene have been described in patients
with severe mental retardation with absent speech, limited walking abilities, epilepsy, and …

Aim: MEF2C haploinsufficiency syndrome (MCHS) is a severe neurodevelopmental
disorder. We describe the clinical phenotypes and genotypes of seven patients with MCHS …

Introduction MEF2C haploinsufficiency syndrome is characterized by severe intellectual
disability, epilepsy, stereotypic movements, minor dysmorphisms and brain abnormalities …

Mutations in the MEF2C (myocyte enhancer factor 2) gene have been established as a
cause for an intellectual disability syndrome presenting with seizures, absence of speech …

MEF2C haploinsufficiency syndrome is an emerging neurodevelopmental disorder
associated with intellectual disability, autistic features, epilepsy, and abnormal movements …

Disorders related to the autosomal transcription factor MEF2C located in 5q14. 3 were first
described in 2009 and have since evolved to one of the more common microdeletion …

Background Over the last few years, array-comparative genomic hybridisation (CGH) has
considerably improved our ability to detect cryptic unbalanced rearrangements in patients …

Purpose Epilepsy is a main manifestation in the autosomal dominant mental retardation
syndrome caused by heterozygous variants in MEF2C. We aimed to delineate the electro …