Whole-genome linkage scan for epilepsy-related photosensitivity: A mega-analysis

Kovel, Carolien G.F. de; Pinto, Dalila; Tauer, Ulrike; Lorenz, Susanne; Muhle, Hiltrud; Leu, Costin; Neubauer, Bernd A.; Hempelmann, Anne; Callenbach, Petra M. C.; Scheffer, Ingrid E.; Berkovic, Samuel F.; Rudolf, Gabrielle; Striano, Pasquale; Siren, Auli; Baykan, Betül; Sander, Thomas; Lindhout, Dick; Trenité, D. G Kasteleijn Nolst; Stephani, Ulrich; Koeleman, Bobby P. C.

doi:10.1016/j.eplepsyres.2010.01.013

Cited by 46 publications

(33 citation statements)

References 24 publications

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“…It occurs in 2% of patients with epilepsy, at a higher rate in adolescents and females (of all photosensitive patients 30% are adults, 40-45% are females) and in patients suffering from IGE, especially in juvenile myoclonic epilepsy (JME) [24,47]. Recent work has examined genetic variables of photosensitivity [71][72][73] albeit, so far, no major common genes have been identified and inheritance is assumed to be complex [74].…”

Section: Reflex Seizures: the Model Of Photosensitivitymentioning

confidence: 97%

Do reflex seizures and spontaneous seizures form a continuum? – Triggering factors and possible common mechanisms

Irmen

Wehner

Lemieux

2015

Seizure

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Recent changes in the understanding and classification of reflex seizures have fuelled a debate on triggering mechanisms of seizures and their conceptual organization. Previous studies and patient reports have listed extrinsic and intrinsic triggers, albeit their multifactorial and dynamic nature is poorly understood. This paper aims to review literature on extrinsic and intrinsic seizure triggers and to discuss common mechanisms among them. Among self-reported seizure triggers, emotional stress is most frequently named. Reflex seizures are typically associated with extrinsic sensory triggers; however, intrinsic cognitive or proprioceptive triggers have also been assessed. The identification of a trigger underlying a seizure may be more difficult if it is intrinsic and complex, and if triggering mechanisms are multifactorial. Therefore, since observability of triggers varies and triggers are also found in non-reflex seizures, the present concept of reflex seizures may be questioned. We suggest the possibility of a conceptual continuum between reflex and spontaneous seizures rather than a dichotomy and discuss evidence to the notion that to some extent most seizures might be triggered.

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Section: Reflex Seizures: the Model Of Photosensitivitymentioning

confidence: 97%

Do reflex seizures and spontaneous seizures form a continuum? – Triggering factors and possible common mechanisms

Irmen

Wehner

Lemieux

2015

Seizure

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“…Interestingly, microdeletions in this area result in idiopathic generalized epilepsy syndromes, which are believed to be highly heritable. 30 C15orf2 is imprinted such that only paternal alleles are expressed in the fetal brain, but both maternal and paternal alleles are expressed in adult tissues including several brain regions and testes. 31 It is feasible that deletions or epigenetic silencing may contribute to vulnerability to heritable forms of epilepsy.…”

Section: Methodsmentioning

confidence: 99%

Prenatal antiepileptic exposure associates with neonatal DNA methylation differences

et al. 2012

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“…2007; De Kovel et al. 2010a,b). A preferential predisposition for absence seizures has also been linked to 13q22–q31 (Hempelmann et al.…”

Section: Discussionmentioning

confidence: 99%

Chromosome loci vary by juvenile myoclonic epilepsy subsyndromes: linkage and haplotype analysis applied to epilepsy and EEG 3.5–6.0 Hz polyspike waves

Wight

Nguyen

Medina³

et al. 2016

Molec Gen & Gen Med

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Juvenile myoclonic epilepsy (JME), the most common genetic epilepsy, remains enigmatic because it is considered one disease instead of several diseases. We ascertained three large multigenerational/multiplex JME pedigrees from Honduras with differing JME subsyndromes, including Childhood Absence Epilepsy evolving to JME (CAE/JME; pedigree 1), JME with adolescent onset pyknoleptic absence (JME/pA; pedigree 2), and classic JME (cJME; pedigree 3). All phenotypes were validated, including symptomatic persons with various epilepsies, asymptomatic persons with EEG 3.5–6.0 Hz polyspike waves, and asymptomatic persons with normal EEGs. Two‐point parametric linkage analyses were performed with 5185 single‐nucleotide polymorphisms on individual pedigrees and pooled pedigrees using four diagnostic models based on epilepsy/EEG diagnoses. Haplotype analyses of the entire genome were also performed for each individual. In pedigree 1, haplotyping identified a 34 cM region in 2q21.2–q31.1 cosegregating with all affected members, an area close to 2q14.3 identified by linkage (Z max = 1.77; pedigree 1). In pedigree 2, linkage and haplotyping identified a 44 cM cosegregating region in 13q13.3–q31.2 (Z max = 3.50 at 13q31.1; pooled pedigrees). In pedigree 3, haplotyping identified a 6 cM cosegregating region in 17q12. Possible cosegregation was also identified in 13q14.2 and 1q32 in pedigree 3, although this could not be definitively confirmed due to the presence of uninformative markers in key individuals. Differing chromosome regions identified in specific JME subsyndromes may contain separate JME disease‐causing genes, favoring the concept of JME as several distinct diseases. Whole‐exome sequencing will likely identify a CAE/JME gene in 2q21.2–2q31.1, a JME/pA gene in 13q13.3–q31.2, and a cJME gene in 17q12.

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Whole-genome linkage scan for epilepsy-related photosensitivity: A mega-analysis

Cited by 46 publications

References 24 publications

Do reflex seizures and spontaneous seizures form a continuum? – Triggering factors and possible common mechanisms

Do reflex seizures and spontaneous seizures form a continuum? – Triggering factors and possible common mechanisms

Prenatal antiepileptic exposure associates with neonatal DNA methylation differences

Chromosome loci vary by juvenile myoclonic epilepsy subsyndromes: linkage and haplotype analysis applied to epilepsy and EEG 3.5–6.0 Hz polyspike waves

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