Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
0.500 GeneticVariation phenotype BEFREE Eating seizures were also reported in rare patients with MECP2 duplication or mutation. 26875109 2016
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
0.500 CausalMutation phenotype CLINVAR 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. 25741868 2015
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
0.500 GeneticVariation phenotype BEFREE Seizures and sleep disturbances were more common than in those with MECP2 mutations whereas features of regression and spinal curvature were less common. 22872100 2013
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
0.500 Biomarker phenotype BEFREE To determine whether an alternative therapy would be more appropriate, we characterized cardiomyocytes from Mecp2(Null/Y) mice and found increased persistent sodium current, which was normalized when cells were treated with the sodium channel-blocking anti-seizure drug phenytoin. 22174313 2012
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
0.500 Biomarker phenotype BEFREE The clinical sensitivity of CDKL5 mutation screening among females with Rett-like features and negative MECP2 screening was 7.8% while the clinical sensitivity among females having cryptogenic intractable seizures with an onset before the ages of 12, 6 and 3 months were 4.7, 11.6 and 14.3%, respectively. 21775177 2012
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
0.500 GeneticVariation phenotype BEFREE Xq28 duplications including MECP2 are a well-known cause of severe mental retardation in males with seizures, muscular hypotonia, progressive spasticity, poor speech and recurrent infections that often lead to early death. 21326285 2011
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
0.500 GeneticVariation phenotype BEFREE In this study we screened several cohorts of children for CDKL5 mutations, totaling 316 patients, including individuals with a clinical diagnosis of RTT but who were negative for MECP2 mutations (n=102), males with X-linked mental retardation (n=9), patients with West syndrome (n=52), patients with autism (n=59), patients with epileptic encephalopathy (n=33), patients with Aicardi syndrome (n=7) and other patients with intellectual disability with or without seizures (n=54). 20397747 2010
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
0.500 GeneticVariation phenotype BEFREE Evaluations include clinical status (classic vs atypical RTT), MECP2 mutations, clinical severity, and presence, frequency, and treatment of seizures. 20231667 2010
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
0.500 Biomarker phenotype CTD_human Misregulation of the methyl-CpG-binding protein 2 (MECP2) gene has been found to cause a myriad of neurological disorders including autism, mental retardation, seizures, learning disabilities, and Rett syndrome. 19921286 2010
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
0.500 GeneticVariation phenotype BEFREE The BDNF Met66 allele may protect against seizures, whereas missense mutations in the MBD of MECP2 are more frequently associated with early seizures. 18434641 2008
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
0.500 GeneticVariation phenotype BEFREE Because most cases of RTT are caused by mutations in the MECP2 gene it is reasonable to assume that convulsions are based on common pathogenetic mechanisms and thus should have a similar response to antiepileptic drugs. 17178248 2007
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
0.500 GeneticVariation phenotype BEFREE MECP2 mutations in females lead to Rett syndrome, a neurological disorder characterized by developmental stagnation and regression, loss of purposeful hand movements and speech, stereotypic hand movements, deceleration of brain growth, autonomic dysfunction and seizures. 17584923 2007
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
0.500 GeneticVariation phenotype BEFREE Although the phenotype of CDKL5 mutation is similar to Rett syndrome caused by MECP2 mutation, the former is characterized by early-onset seizures and association with West syndrome. 16806828 2006
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
0.500 GeneticVariation phenotype BEFREE MECP2 mutations should be assessed in boys with progressive encephalopathy and one or more of respiratory insufficiency, abnormal movements or tone, and intractable seizures. 16832102 2006
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
0.500 GeneticVariation phenotype BEFREE Cases without a detectable MECP2 mutation had a higher risk of seizure onset up to 4 years of age (P < .001) but a lower risk after 4 years (P = .08). 17011329 2006
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
0.500 GeneticVariation phenotype BEFREE The phenotypic spectrum of MECP2 mutations is broad and includes mental retardation with or without seizures, Angelman syndrome-like phenotype, and autism. 16225828 2005
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
0.500 GeneticVariation phenotype BEFREE CDKL5 belongs to the same molecular pathway of MeCP2 and it is responsible for the early-onset seizure variant of Rett syndrome. 15917271 2005
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
0.500 GeneticVariation phenotype LHGDN An 806delG mutation of MECP2 was found in a boy with severe developmental delay, seizures, microcephaly, breathing dysfunction, and spontaneous and evoked myoclonic jerks of upper limbs. 15557528 2005
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
0.500 GeneticVariation phenotype BEFREE We have identified two mutations in this particular domain (S359P and E397K) in two boys who were screened for MECP2 mutations in a series of 23 mentally handicapped boys fitting the clinical description of the previously reported cases. 11896461 2002
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
0.500 Biomarker phenotype HPO