The different patterns of the photoparoxysmal response — a genetic study

Waltz, Stephan; Christen, H.-J.; Doose, H

doi:10.1016/0013-4694(92)90027-f

Cited by 218 publications

(186 citation statements)

References 15 publications

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“…In humans, photosensitivity is an age-dependent phenomenon and is more prevalent in children with a peak age of onset about 12 y (27). There is also strong evidence for a genetic component of photoparoxysmal response (PPR) in humans and many loci have been identified (27)(28)(29)(30). Thus, affected RRs provide another spontaneous large animal model to investigate the neural mechanisms of photosensitivity (31,32).…”

Section: Discussionmentioning

confidence: 99%

Generalized myoclonic epilepsy with photosensitivity in juvenile dogs caused by a defective DIRAS family GTPase 1

Wielaender

Sarviaho

James

et al. 2017

Proc. Natl. Acad. Sci. U.S.A.

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The clinical and electroencephalographic features of a canine generalized myoclonic epilepsy with photosensitivity and onset in young Rhodesian Ridgeback dogs (6 wk to 18 mo) are described. A fully penetrant recessive 4-bp deletion was identified in the DIRAS family GTPase 1 (DIRAS1) gene with an altered expression pattern of DIRAS1 protein in the affected brain. This neuronal DIRAS1 gene with a proposed role in cholinergic transmission provides not only a candidate for human myoclonic epilepsy but also insights into the disease etiology, while establishing a spontaneous model for future intervention studies and functional characterization.seizure | juvenile | canine | photosensitivity | Ras

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Section: Discussionmentioning

confidence: 99%

Generalized myoclonic epilepsy with photosensitivity in juvenile dogs caused by a defective DIRAS family GTPase 1

Wielaender

Sarviaho

James

et al. 2017

Proc. Natl. Acad. Sci. U.S.A.

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“…They were re-evaluated by an experienced neurophysiology technician (WS) who was familiar with the reporting style of both Reports were also divided according to the presence of PPR, defined as an abnormal posterior response spreading to anterior regions (Waltz criteria III or IV) (Waltz et al, 1992). Waltz I and II were included in the JME-PPR group.…”

Section: Eeg Analysismentioning

confidence: 99%

“…There are four types of PPR: (I) spikes within the occipital rhythm, limited to the occipital regions (II) parieto-occipital spikes with a biphasic slow wave, (III) parieto-occipital spikes with a biphasic slow wave and spread to the frontal region, and (IV) generalised spikes and wave or polyspikes and wave (Waltz et al, 1992). Types (I) and (II) are generally seen as unrelated to epilepsy (Kasteleijn-Nolst Trenité et al, 2001;Waltz et al, 1992).…”

Section: Introductionmentioning

confidence: 99%

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The topographical distribution of epileptic spikes in juvenile myoclonic epilepsy with and without photosensitivity

Bauer

Gorgels

Spetgens

et al. 2017

Clinical Neurophysiology

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The topographical distribution of epileptic spikes in juvenile myoclonic epilepsy with and without photosensitivity, Clinical Neurophysiology (2016), doi: http://dx.doi.org/10. 1016/j.clinph.2016.10.098 This is a PDF file of an unedited manuscript that has been accepted for publication. As a service to our customers we are providing this early version of the manuscript. The manuscript will undergo copyediting, typesetting, and review of the resulting proof before it is published in its final form. Please note that during the production process errors may be discovered which could affect the content, and all legal disclaimers that apply to the journal pertain. AbstractObjective: Up to 30% of people with juvenile myoclonic epilepsy (JME) have photoparoxysmal responses (PPR). Recent studies report on structural and pathophysiological differences between people with JME with (JME+PPR) and without PPR (JME-PPR). We investigated whether electrophysiological features outside photic stimulation differ between these subtypes. Methods:We analysed EEG recordings of people with JME at a tertiary epilepsy centre and an academic hospital. Photosensitivity was assessed in a drug-naïve condition. We compared the occurrence and involvement of posterior electrodes for focal abnormalities and generalised spikewave activity in the EEG outside photic stimulation between JME+PPR and JME-PPR. Results:We included EEG recordings of 18 people with JME+PPR and 21 with JME-PPR. People with JME-PPR had less focal abnormalities in the posterior brain regions than people with JME+PPR (19% vs 55%, p<0.05). There was no difference in the distribution of generalised spike-wave activity between people with JME+PPR and JME-PPR. Conclusion:This study demonstrates electrophysiological correlates of the previously described structural and physiological differences between JME+PPR and JME-PPR.Significance: Findings support the hypothesis that posterior interictal EEG abnormalities reflect localised cortical hyperexcitability, which makes patients with JME more sensitive to photic stimuli.

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“…Fotoparoksismal yan›t (FPY), IFS'ye verdi¤i anormal yan›ta göre 4 alt gruba ayr›l›r. Bunlar; 1-Oksipital bölgedeki normal ritmle birlikte diken, 2-Bifazik yavafl dalga ile birlikte paryetooksipital diken, 3-Frontal bölgeye yay›lan bifazik yavafl dalga ile birlikte paryetooksipital diken, 4-Jeneralize diken dalga ya da multipl diken dalgalard›r (2,4). FPY, idyopatik jeneralize epilepsili (IJE) olgular›n %30-35'inde görülür.…”

Section: Giriflunclassified

Fotosensitif Epilepsilerde Klinik ve EEG Bulgularının GABA Reseptör Alfa 1 Alt Ünitesi (GABRA1) Geni Mutasyonları ile İlişkisinin Araştırılması

Yavuz¹,

Demirkan²,

Moen³

et al. 2011

Npa

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The different patterns of the photoparoxysmal response — a genetic study

Cited by 218 publications

References 15 publications

Generalized myoclonic epilepsy with photosensitivity in juvenile dogs caused by a defective DIRAS family GTPase 1

Generalized myoclonic epilepsy with photosensitivity in juvenile dogs caused by a defective DIRAS family GTPase 1

The topographical distribution of epileptic spikes in juvenile myoclonic epilepsy with and without photosensitivity

Fotosensitif Epilepsilerde Klinik ve EEG Bulgularının GABA Reseptör Alfa 1 Alt Ünitesi (GABRA1) Geni Mutasyonları ile İlişkisinin Araştırılması

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