Seizures
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
Electroencephalographic (EEG) and seizure types occurring in MECP2 DS have been poorly investigated.
|
30642617 |
2019 |
Seizures
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
Here, we report the first case of a male patient presenting with an early seizure type of Rett-like phenotypes with a missense variant of MECP2.
|
30569584 |
2019 |
Seizures
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
Specific MECP2 mutations were not significantly associated with either seizure prevalence or seizure severity.
|
28007990 |
2017 |
Seizures
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
Mutations of the MECP2 gene should be considered early in males with hypotonia, developmental delay, profound intellectual impairment, and seizures, associated with a mother with psychosocial, cognitive, and gastrointestinal impairments.
|
28089766 |
2017 |
Seizures
|
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 |
Seizures
|
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 |
Seizures
|
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 |
2011 |
Seizures
|
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 |
Seizures
|
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 |
Seizures
|
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 |
Seizures
|
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 |
Seizures
|
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 |
Seizures
|
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 |
Seizures
|
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 |
Seizures
|
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 |
Seizures
|
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 |
Seizures
|
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 |
Seizures
|
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 |