Photoparoxysmal EEG response and genetic dissection of juvenile myoclonic epilepsy

Koeleman, Bobby P. C.; Kovel, Carolien G.F. de; Trenité, Dorothee Kasteleijn‐Nolst

doi:10.1016/j.yebeh.2012.07.016

Cited by 11 publications

(10 citation statements)

References 15 publications

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“…This pattern may provide the basis for myoclonic jerks because prefrontal cortex activity associated with cognitive processes can propagate discharges to the motor areas. Moreover, altered structural connectivity findings between motor and occipital areas may help explain why JME may exhibit photoparoxysmal responses …”

Section: Future Clinical Translationmentioning

confidence: 99%

Connectomics and graph theory analyses: Novel insights into network abnormalities in epilepsy

2015

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SUMMARYThe assessment of neural networks in epilepsy has become increasingly relevant in the context of translational research, given that localized forms of epilepsy are more likely to be related to abnormal function within specific brain networks, as opposed to isolated focal brain pathology. It is notable that variability in clinical outcomes from epilepsy treatment may be a reflection of individual patterns of network abnormalities. As such, network endophenotypes may be important biomarkers for the diagnosis and treatment of epilepsy. Despite its exceptional potential, measuring abnormal networks in translational research has been thus far constrained by methodologic limitations. Fortunately, recent advancements in neuroscience, particularly in the field of connectomics, permit a detailed assessment of network organization, dynamics, and function at an individual level. Data from the personal connectome can be assessed using principled forms of network analyses based on graph theory, which may disclose patterns of organization that are prone to abnormal dynamics and epileptogenesis. Although the field of connectomics is relatively new, there is already a rapidly growing body of evidence to suggest that it can elucidate several important and fundamental aspects of abnormal networks to epilepsy. In this article, we provide a review of the emerging evidence from connectomics research regarding neural network architecture, dynamics, and function related to epilepsy. We discuss how connectomics may bring together pathophysiologic hypotheses from conceptual and basic models of epilepsy and in vivo biomarkers for clinical translational research. By providing neural network information unique to each individual, the field of connectomics may help to elucidate variability in clinical outcomes and open opportunities for personalized medicine approaches to epilepsy. Connectomics involves complex and rich data from each subject, thus collaborative efforts to enable the systematic and rigorous evaluation of this form of "big data" are paramount to leverage the full potential of this new approach.

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Section: Future Clinical Translationmentioning

confidence: 99%

Connectomics and graph theory analyses: Novel insights into network abnormalities in epilepsy

2015

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“…Lastly, the number of EFHC1 variations found among our patients is relatively small. Assuming polygenetic causes of JME [37], the validity of our results may be reduced.…”

Section: Discussionmentioning

confidence: 77%

“…Although PPRs are reported to be not predictive of the long-term seizure outcome in JME [16,36], PPR positivity was shown to highly increase the risk of seizure relapse after AED discontinuation [16]. In a very recent study on PPRs, Koeleman et al hypothesized a heterogeneous, presumably polygenic cause [37]; additionally, several prior studies revealed associations with candidate genes (NEDD4-22, TRPC4, and BRD2) [38][39][40]. Lorenz Fig.…”

Section: Discussionmentioning

confidence: 99%

Predictive value of EFHC1 variants for the long-term seizure outcome in juvenile myoclonic epilepsy

Podewils

Kowoll

Schroeder

et al. 2015

Epilepsy & Behavior

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“…Family members of JME are often affected or carry the abnormal EEG traits, as 80% percent of symptomatic siblings and 6% of asymptomatic siblings have diffuse 4-6 Hz spike-and-wave complexes [58]. Photoparoxysmal EEG response is another heritable trait of JME, and can be found in 20 to 60% of near relatives of probands [59].…”

Section: Electrographic Findingsmentioning

confidence: 99%

Juvenile Myoclonic Epilepsy — A Maturation Syndrome Coming of Age

Pella¹,

Mukundan²,

Szabo³

2014

Epilepsy Topics

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because primary centers achieve successful treatment via antiepileptic medications. Moreover, JME is often under-diagnosed and misdiagnosed [22, 23], which can present a challenge to estimating its prevalence. As an illustration, a French study [24] showed that the prevalence of JME in one geographic area was 0% between 1986 and 1994, which rose to nearly 50% between 1996 and 2000, likely due to increased recognition of the syndrome. Moreover, variations in clinical onset can present a challenge to estimating the prevalence of JME. Although JME the peak age of onset is in adolescence (12-18 years), similar to most GGE syndromes [10, 25], the age of onset can vary from 8 to 36 years. There are also de novo diagnoses in early adulthood, and JME can, though rarely, begin or be reactivated in advanced ages. For instance, a case report presented two patients from Turkey in whom JME began after the age of 70 [26]. 4. Clinical diagnosis Myoclonic Seizures: As noted above, myoclonic movements are one of the main symptoms of JME and consist of generalized seizures which are brief, irregular jerks of the head, trunk, and limbs that can be either symmetric or asymmetric, and may involve isolated regions of the body or the whole body. They usually predominate in the upper limbs (mostly distal muscles), although they occasionally involve muscles in the abdomen, paraspinal distributions, and lower extremity [27]. It is not uncommon for myoclonic seizures to be so subtle or brief that they are perceived as benign "inner shocks". As subtle as the may be, patients tend to more readily notice asymmetric jerks involving the dominant upper extremity because such movements noticeably impair daily functioning. The jerks, if violent, may cause the patient to drop or throw objects, or fall to the floor-which may be mistaken for nonpathological clumsiness. Myoclonic seizures can manifest as discrete, single events or they may occur in clusters. They are usually not associated with loss of consciousness but it is not uncommon for patients to lose awareness during the jerks. Moreover, clusters of myoclonic events can evolve into a GTCS and cause post-ictal confusion. They can occur during transition to sleep or during awakening from sleep, usually in the early morning hours [28]. This early morning pattern of seizures is associated with an increase in cortical excitability during that time of day, which has been noted in other patients with GGE, but to a greater extent in JME patients [29]. Developmentally, these jerks often subside in the fourth decade of life, although GTCS or absence seizures tend to persist [30]. Generalized Tonic-Clonic Seizures: About 80% of the patients with JME have GTCS. These seizures are also more likely to occur if precipitated by sleep deprivation or alcohol intake. Usually, these events are immediately preceded by a series of myoclonic jerks and associated tongue biting prior to generalization. Because, as noted above, myoclonic events are often insidious, patients first seek treatment following an initial GT...

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Photoparoxysmal EEG response and genetic dissection of juvenile myoclonic epilepsy

Cited by 11 publications

References 15 publications

Connectomics and graph theory analyses: Novel insights into network abnormalities in epilepsy

Connectomics and graph theory analyses: Novel insights into network abnormalities in epilepsy

Predictive value of EFHC1 variants for the long-term seizure outcome in juvenile myoclonic epilepsy

Juvenile Myoclonic Epilepsy — A Maturation Syndrome Coming of Age

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