Predisposition to epilepsy in fragile X syndrome: Does the Val66Met polymorphism in the BDNF gene play a role?

Reduction of BDNF expression in Fmr1 knockout mice worsens cognitive deficits but improves hyperactivity and sensorimotor deficits

“…This may influence the outcome of clinical studies with different experimental approaches. For example, a Finnish population-based study of FXS men found associations between polymorphisms in the BDNF gene with epilepsy (Louhivuori et al 2009) whereas a Spanish study that used a more heterogenous population found no association of the single Val66Met polymorphism in the BDNF gene with epilepsy (Tondo et al 2011).…”

Fragile X Syndrome: A Review of Associated Medical Problems

“…29 There are variable figures for the prevalence of seizures depending on the cohort under study. Previous studies recruiting from programs focused on epilepsy and neurology clinics reported a broad range of 14% to 44% prevalence, [30][31][32][33][34][35][36][37][38] and genetics clinics reported an intermediate range of 9% to 27%. [39][40][41][42] Larger studies focused on people with FXS in the community or FXS clinics reported lower prevalence rates overall, ranging from 12% to 18%, 29,[43][44][45] and with higher prevalence for male than for female patients.…”

“…45 and secondary generalization and status epilepticus can occur. 48,49 Seizures are easily controlled 29,31,36,38,42,45,47 and resolve during childhood in the majority of people with FXS. 43,47 Routine EEG screening of people with FXS is not recommended unless the patient presents with behaviors or episodes that might represent seizures.…”

Significant association of <em>BDNF</em> rs6265 G&gt;A polymorphism with susceptibility to epilepsy: a meta-analysis

“… 19 , 21 – 29 Among these studies, five studies focused on adult patients, 19 , 21 , 22 , 26 , 27 four studies focused on pediatric patients, 23 – 25 , 28 and one study focused on mixed patients. 29 Six studies researched Asian populations 9 , 23 , 24 , 26 – 28 and four researched Caucasian populations. 21 , 22 , 25 , 29 Five studies focused on the subtype of temporal lobe epilepsy.…”

“… 29 Six studies researched Asian populations 9 , 23 , 24 , 26 – 28 and four researched Caucasian populations. 21 , 22 , 25 , 29 Five studies focused on the subtype of temporal lobe epilepsy. 19 , 21 , 22 , 24 , 27 In the genotyping method subgroup, four studies used polymerase chain reaction-restriction fragment length polymorphism, 19 , 22 , 23 , 25 , 28 two studies used applied biosystems, 21 , 29 one study adopted direct sequencing, 24 one study used Illumina HumanHap, 26 and the last study applied the Taqman method.…”