Epilepsy and fragile X gene mutations

Kluger, Gerhard; Böhm, Ingolf; Laub, M.; Waldenmaier, C.

doi:10.1016/s0887-8994(96)00251-2

Cited by 34 publications

(24 citation statements)

References 12 publications

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“…The majority of young patients with fra(X) syndrome demonstrated a peculiar EEG pattern of paroxysmal discharges, which is very similar to that observed in epilepsy with centrotemporal spikes (18,27,29). In the two studies, retrospective and prospective, this EEG pattern was found in 48 and 43.5% of all patients, respectively, and in 52 and 50.3% of patients younger than 12 years.…”

Section: Discussionsupporting

confidence: 66%

Epilepsy and EEG Findings in Males with Fragile X Syndrome

et al. 1999

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Summary: Purpose and Methods: One hundred and ninetytwo fragile X male patients were investigated for seizures and EEG findings, 168 in a retrospective and 24 in another prospective study, to characterize the natural history of seizures, epilepsy, and EEG abnormalities in males with this syndrome.Results: Seizures were documented in 35 (18.2%) of 192 patients; they never started before the age of 2 years or after the age of 9 years. Seizures were frequently of the complex partial type and less frequently of the partial motor and generalized type. Seizures involving frontal and temporal lobes were commonly seen and were usually well controlled by anticonvulsants. I n the majority of young fragile X patients studied, an age-related paroxysmal EEG pattern was found, which showed neurophysiologic characteristics very similar to those of the centrotemporal spikes.Conclusions: These findings confirm that fragile X syndrome can be considered a genetic model of epilepcy.

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Section: Discussionsupporting

confidence: 66%

Epilepsy and EEG Findings in Males with Fragile X Syndrome

et al. 1999

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“…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.…”

Section: Neurologic Disordersmentioning

confidence: 99%

Fragile X Syndrome: A Review of Associated Medical Problems

et al. 2014

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Fragile X syndrome (FXS) is the most common known genetic cause of inherited intellectual disability and the most common known singlegene cause of autism spectrum disorder. It has been reported that a spectrum of medical problems are commonly experienced by people with FXS, such as otitis media, seizures, and gastrointestinal problems. Previous studies examining the prevalence of medical problems related to FXS have been challenging to interpret because of their marked differences in population, setting, and sampling. Through this comprehensive review, we update the literature by reviewing studies that have reported on prominent medical problems associated with FXS. We then compare prevalence results from those studies with results from a large cross-sectional database consisting of data collected by fragile X clinics that specialize in the care of children with FXS and are part of the Fragile X Clinical and Research Consortium. It is vital for pediatricians and other clinicians to be familiar with the medical problems related to FXS so that affected patients may receive proper diagnosis and treatment; improved care may lead to better quality of life for these patients and their families. Pediatrics 2014;134:995-1005

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“…For example, rolandic spikes, the most common variety of IEDs in this cohort, are seen in specific genetic intellectual disability syndromes (Rett syndrome 21 and fragile X syndrome 22 ), but can also be associated with the pediatric syndrome of benign epilepsy with Figure 1 Plot showing clustering of EEG results (presence/absence of IEDs) by subject EEG distribution within each subject. IED 5 interictal epileptiform discharge.…”

Section: Ied Topology Was Central-temporal (Ie "Rolandic")mentioning

confidence: 99%

Variations in EEG discharges predict ADHD severity within individual Smith-Lemli-Opitz patients

Benbadis

Ewen

Schreiber³

et al. 2015

Neurology

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Objective: We sought to examine the prevalence of EEG abnormalities in Smith-Lemli-Opitz syndrome (SLOS) as well as the relationship between interictal epileptiform discharges (IEDs) and within-subject variations in attentional symptom severity. Methods:In the context of a clinical trial for SLOS, we performed cross-sectional and repeatedmeasure observational studies of the relationship between EEG findings and cognitive/behavioral factors on 23 children (aged 4-17 years). EEGs were reviewed for clinical abnormalities, including IEDs, by readers blinded to participants' behavioral symptoms. Between-group differences in baseline characteristics of participants with and without IEDs were analyzed. Within-subject analyses examined the association between the presence of IEDs and changes in attentiondeficit/hyperactivity disorder (ADHD) symptoms.Results: Of 85 EEGs, 43 (51%) were abnormal, predominantly because of IEDs. Only one subject had documented clinical seizures. IEDs clustered in 13 subjects (57%), whereas 9 subjects (39%) had EEGs consistently free of IEDs. While there were no significant group differences in sex, age, intellectual disability, language level, or baseline ADHD symptoms, autistic symptoms tended to be more prevalent in the "IED" group (according to Autism Diagnostic Observation Schedule-2 criteria). Within individuals, the presence of IEDs on a particular EEG predicted, on average, a 27% increase in ADHD symptom severity. Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive syndrome caused by an inborn error of cholesterol biosynthesis, which may result in intellectual disability; attention-deficit/ hyperactivity disorder (ADHD); autistic features; and brain, facial, and limb malformations. While seizures are uncommon, 1,2 EEG abnormalities have not been examined systematically. As part of a clinical trial to assess the efficacy of simvastatin, an HMG CoA-reductase inhibitor, serial clinical EEGs, and neuropsychological testing were performed, thus providing a unique opportunity to examine the characteristics of EEG in SLOS, as well as the relationship between interictal epileptiform discharges (IEDs) and behavioral symptoms in a neurodevelopmental Conclusions:

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Epilepsy and fragile X gene mutations

Cited by 34 publications

References 12 publications

Epilepsy and EEG Findings in Males with Fragile X Syndrome

Epilepsy and EEG Findings in Males with Fragile X Syndrome

Fragile X Syndrome: A Review of Associated Medical Problems

Variations in EEG discharges predict ADHD severity within individual Smith-Lemli-Opitz patients

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