title: MEF2C mutations are a rare cause of Rett or severe Rett-like encephalopathies.
authors.forename: L
authors.initials: L
authors.lastname: Lambert
authors.forename: T
authors.initials: T
authors.lastname: Bienvenu
authors.forename: L
authors.initials: L
authors.lastname: Allou
authors.forename: M
authors.initials: M
authors.lastname: Valduga
authors.forename: B
authors.initials: B
authors.lastname: Echenne
authors.forename: B
authors.initials: B
authors.lastname: Diebold
authors.forename: C
authors.initials: C
authors.lastname: Mignot
authors.forename: D
authors.initials: D
authors.lastname: Héron
authors.forename: V
authors.initials: V
authors.lastname: Roth
authors.forename: A
authors.initials: A
authors.lastname: Saunier
authors.forename: A
authors.initials: A
authors.lastname: Moustaïne
authors.forename: P
authors.initials: P
authors.lastname: Jonveaux
authors.forename: C
authors.initials: C
authors.lastname: Philippe
mesh_terms: D002648:Child; D002675:Child, Preschool; D005091:Exons; D005260:Female; D051858:Forkhead Transcription Factors / Q000235:genetics; D015321:Gene Rearrangement; D014644:Genetic Variation; D006801:Humans; D007223:Infant; D026161:MADS Domain Proteins / Q000235:genetics*; D064326:MEF2 Transcription Factors; D008297:Male; D009154:Mutation; D018006:Myogenic Regulatory Factors / Q000235:genetics*; D009419:Nerve Tissue Proteins / Q000235:genetics; D010641:Phenotype; D017346:Protein Serine-Threonine Kinases / Q000235:genetics; D015518:Rett Syndrome / Q000175:diagnosis / Q000235:genetics*
chemical_list: C090173:FOXG1 protein, human; D051858:Forkhead Transcription Factors; D026161:MADS Domain Proteins; D064326:MEF2 Transcription Factors; C578040:MEF2C protein, human; D018006:Myogenic Regulatory Factors; D009419:Nerve Tissue Proteins; D017346:Protein Serine-Threonine Kinases; C114482:CDKL5 protein, human