The p.Val66Met polymorphism in the
            <i>BDNF</i>
            gene protects against early seizures in Rett syndrome

Nectoux, Juliette; Bahi-Buisson, Nadia; Guellec, Isabelle; Coste, Joël; Roux, Nicolas; Rosas, H. Diana; Tardieu, Marc; Chelly, Jamel; Bienvenu, T.

doi:10.1212/01.wnl.0000304086.75913.b2

Cited by 48 publications

(46 citation statements)

References 30 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…The distribution of the BDNF polymorphism variant was found to be similar to what has been previously reported in the literature in Caucasian populations 12 including a cohort of patients with Rett syndrome. 31 Both the type of mutation and degree of skewing of X-chromosome inactivation have an effect on RTT severity, including pattern of seizure onset 32 and frequency. 33 There were some differences in the distribution of mutations between the two case sources, e.g., the p.R270X mutation was more common in the Australian cohort, and C-terminal deletions were more common in the Israeli cohort.…”

Section: Resultsmentioning

confidence: 99%

“…In a recent publication, 31 the effect of the common BDNF functional polymorphism was investigated in a cohort of 81 girls with various mutations looking at both a general score (using the Kerr scor- ing system 38 ) and also on 14 different clinical features separately (combining all mutations together). Although the authors did not find a significant relationship with the overall severity score, they did find that the BDNF genotype distribution tended to be different in the areas of hand skills and age at seizure onset (defined simply as a categorical variable, with early onset described as before 2 years of age).…”

Section: Resultsmentioning

confidence: 99%

See 1 more Smart Citation

The common BDNF polymorphism may be a modifier of disease severity in Rett syndrome

Zeev

Bebbington²,

Ho³

et al. 2009

Neurology

View full text Add to dashboard Cite

show abstract

Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

The common BDNF polymorphism may be a modifier of disease severity in Rett syndrome

Zeev

Bebbington²,

Ho³

et al. 2009

Neurology

View full text Add to dashboard Cite

show abstract

“…However, the correlation between onset and severity of epilepsy and MeCP2 genotype in Rett syndrome patients is controversial. Although some studies report such a correlation (Jian et al, 2006;Nectoux et al, 2008), others do not (Nissenkorn et al, 2010).…”

Section: Comorbidity With Autismmentioning

confidence: 97%

Epigenetic Mechanisms in Stroke and Epilepsy

Hwang

Aromolaran

Zukin

2012

Neuropsychopharmacol

View full text Add to dashboard Cite

Epigenetic remodeling and modifications of chromatin structure by DNA methylation and histone modifications represent central mechanisms for the regulation of neuronal gene expression during brain development, higher-order processing, and memory formation. Emerging evidence implicates epigenetic modifications not only in normal brain function, but also in neuropsychiatric disorders. This review focuses on recent findings that disruption of chromatin modifications have a major role in the neurodegeneration associated with ischemic stroke and epilepsy. Although these disorders differ in their underlying causes and pathophysiology, they share a common feature, in that each disorder activates the gene silencing transcription factor REST (repressor element 1 silencing transcription factor), which orchestrates epigenetic remodeling of a subset of 'transcriptionally responsive targets' implicated in neuronal death. Although ischemic insults activate REST in selectively vulnerable neurons in the hippocampal CA1, seizures activate REST in CA3 neurons destined to die. Profiling the array of genes that are epigenetically dysregulated in response to neuronal insults is likely to advance our understanding of the mechanisms underlying the pathophysiology of these disorders and may lead to the identification of novel therapeutic strategies for the amelioration of these serious human conditions.

show abstract

“…Status epilepticus does not occur more often than in severely mentally retarded children in general. Recent research reveals that the brain-derived neurotropic factor (BDNF) Met66 allele acts as a protective factor against seizures whereas missense mutations in the methyl-binding domain of MECP2 are more frequently associated with early seizures [Nectoux et al, 2008]. Brainstem events may be confused with seizures or are difficult to interpret as such by parents and caretakers.…”

Section: Features Common In Rttmentioning

confidence: 99%

Rett Syndrome

2011

View full text Add to dashboard Cite

Rett syndrome is one of the most common causes of complex disability in girls. It is characterized by early neurological regression that severely affects motor, cognitive and communication skills, by autonomic dysfunction and often a seizure disorder. It is a monogenic X-linked dominant neurodevelopmental disorder related to mutation in MECP2, which encodes the methyl-CpG-binding protein MeCP2. There are several mouse models either based on conditional knocking out of the Mecp2 gene or on a truncating mutation. We discuss the clinical aspects with special emphasis on the behavioral phenotype and we review current perspectives in clinical management alongside with perspectives in altering gene expression.

show abstract

The p.Val66Met polymorphism in the BDNF gene protects against early seizures in Rett syndrome

Abstract: Early onset of seizures is linked to the combined MECP2 and BDNF genotypes. The BDNF Met66 allele may protect against seizures, whereas missense mutations in the MBD of MECP2 are more frequently associated with early seizures.

Cited by 48 publications

References 30 publications

The common BDNF polymorphism may be a modifier of disease severity in Rett syndrome

The common BDNF polymorphism may be a modifier of disease severity in Rett syndrome

Epigenetic Mechanisms in Stroke and Epilepsy

Rett Syndrome

Contact Info

Product

Resources

About