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

European Journal of Medical Genetics

Volumn 59, Issue 9, 2016, Pages 478-482

  Rocha, Helena ^a,b   Sampaio, Mafalda ^a   Rocha, Ruben ^a   Fernandes, Susana ^c   Leão, Miguel ^a  

^a Centro Hospitalar Universitário de São João   (Portugal)

^b University of Porto   (Portugal)

^c Inst of Pharmacol and Therapeutics   (Portugal)

Author keywords

Epilepsy; Haploinsufficiency; Hyperkinesis; Intellectual disability; MEF2C

Indexed keywords

CARBAMAZEPINE; CLOBAZAM; CLONAZEPAM; LAMOTRIGINE; LEVETIRACETAM; MYOCYTE ENHANCER FACTOR 2; MYOCYTE ENHANCER FACTOR 2C; TOPIRAMATE; UNCLASSIFIED DRUG; VALPROIC ACID; VIGABATRIN; ZONISAMIDE; MEF2C PROTEIN, HUMAN;

BITE; CASE REPORT; CENTRAL SULCUS; CEREBROSPINAL FLUID; CHILD; COMMUNICATION SKILL; CONVERGENT STRABISMUS; ELECTROENCEPHALOGRAPHY; EPILEPTIC DISCHARGE; FEVER; FRAGILE X SYNDROME; GENE MUTATION; GENETIC DISORDER; HAPLOINSUFFICIENCY; HETEROZYGOTE; HUMAN; HYPERKINESIA; INTELLECTUAL IMPAIRMENT; LARGE EAR; MALE; MEF2C HAPLOSUFFICIENCY SYNDROME; MUSCLE HYPOTONIA; MYOCLONUS SEIZURE; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; PSYCHOMOTOR DISORDER; REVIEW; SCHOOL CHILD; STEREOTYPY; THETA RHYTHM; WHITE MATTER; ABNORMALITIES; BRAIN; DIAGNOSTIC IMAGING; EPILEPSY; GENETICS; MUTATION; SYNDROME;

BRAIN; CHILD; EPILEPSY; HAPLOINSUFFICIENCY; HUMANS; INTELLECTUAL DISABILITY; MALE; MEF2 TRANSCRIPTION FACTORS; MUTATION; SYNDROME;

EID: 84973533353     PISSN: 17697212     EISSN: 18780849     Source Type: Journal    
DOI: 10.1016/j.ejmg.2016.05.017     Document Type: Review

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