Electroencephalographic generalized features in idiopathic childhood focal epilepsies

Yum, Mi‐Sun; Ko, Tae‐Sung; Lee, Eun Hye; Jeong, Min-Hee

doi:10.1016/j.seizure.2010.02.006

Cited by 4 publications

(3 citation statements)

References 23 publications

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“…Earlier studies suggested that IPOE is biologically related to generalized epilepsy (see 'Materials and methods' section); indeed in 9/13 (69%) families IPOE exclusively co-segregated with JME and other generalized syndromes; however, cases with exclusively focal epilepsy (temporal and frontal lobe epilepsy) in their family members were also seen. Similarly, self-limited focal epilepsies of childhood, while classically considered focal epilepsies, can have features overlapping with generalized syndromes (Bray and Wiser, 1965;Degen and Degen, 1990;Yum et al, 2010;Cerminara et al, 2012). Co-occurrence with generalized epilepsies in 13 'mixed' families here is reflective of this, and may suggest shared genetic determinants in the context of the ill-understood genetic architecture of the self-limited focal epilepsies of childhood (see above).…”

Section: Broad Classification Of Familiesmentioning

confidence: 72%

Phenotypic analysis of 303 multiplex families with common epilepsies

Abou‐Khalil¹,

Afawi²,

Allen³

et al. 2017

Brain

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Gene identification in epilepsy has mainly been limited to large families segregating genes of major effect and de novo mutations in epileptic encephalopathies. Many families that present with common non-acquired focal epilepsies and genetic generalized epilepsies remain unexplained. We assembled a cohort of 'genetically enriched' common epilepsies by collecting and phenotyping families containing multiple individuals with unprovoked seizures. We aimed to determine if specific clinical epilepsy features aggregate within families, and whether this segregation of phenotypes may constitute distinct 'familial syndromes' that could inform genomic analyses. Families with three or more individuals with unprovoked seizures were studied across multiple international centres. Affected individuals were phenotyped and classified according to specific electroclinical syndromes. Families were categorized based on syndromic groupings of affected family members, examined for pedigree structure and phenotypic patterns and, where possible, assigned specific familial epilepsy syndromes. A total of 303 families were assembled and analysed, comprising 1120 affected phenotyped individuals. Of the 303 families, 117 exclusively segregated generalized epilepsy, 62 focal epilepsy, and 22 were classified as genetic epilepsy with febrile seizures plus. Over one-third (102 families) were observed to have mixed epilepsy phenotypes: 78 had both generalized and focal epilepsy features within the same individual (n = 39), or within first or second degree relatives (n = 39). Among the genetic generalized epilepsy families, absence epilepsies were found to cluster within families independently of juvenile myoclonic epilepsy, and significantly more females were affected than males. Of the 62 familial focal epilepsy families, two previously undescribed familial focal syndrome patterns were evident: 15 families had posterior quadrant epilepsies, including seven with occipito-temporal localization and seven with temporo-parietal foci, and four families displayed familial focal epilepsy of childhood with multiple affected siblings that was suggestive of recessive inheritance. The findings suggest (i) specific patterns of syndromic familial aggregation occur, including newly recognized forms of familial focal epilepsy; (ii) although syndrome-specificity usually occurs in multiplex families, the one-third of families with features of both focal and generalized epilepsy is suggestive of shared genetic determinants; and (iii) patterns of features observed across families including pedigree structure, sex, and age of onset may hold clues for future gene identification. Such detailed phenotypic information will be invaluable in the conditioning and interpretation of forthcoming sequencing data to understand the genetic architecture and inter-relationships of the common epilepsy syndromes.

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Section: Broad Classification Of Familiesmentioning

confidence: 72%

Phenotypic analysis of 303 multiplex families with common epilepsies

Abou‐Khalil¹,

Afawi²,

Allen³

et al. 2017

Brain

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“…Because there is a lack of literature examining EEG findings in patients with JME before onset, it is uncertain whether GSWs or GPSWs constitute a special condition before the onset of JME or act as predictors of the development of JME. A previous study reported that generalized features of EEG were observed in patients with idiopathic childhood focal epilepsy with a relatively high incidence 17 . In an EEG study of normal children, 3.54% of subjects were reported to show a typical epileptiform pattern, including GSWs 18 .…”

Section: Discussionmentioning

confidence: 93%

“…A previous study reported that generalized features of EEG were observed in patients with idiopathic childhood focal epilepsy with a relatively high incidence. 17 In an EEG study of normal children, 3.54% of subjects were reported to show a typical epileptiform pattern, including GSWs. 18 In the four patients in the current study, it is possible that JME occurred by chance.…”

Section: Discussionmentioning

confidence: 99%

Clinical and electroencephalographic findings prior to the onset of juvenile myoclonic epilepsy: A case series

Hiraiwa

Kobayashi

Hojo

et al. 2023

Epileptic Disorders

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Benign rolandic epilepsy and generalized paroxysms: A study of 13 patients

Vargas

Beltran

Lizama

et al. 2018

Seizure

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We found evidence that patients with BRE may have generalized EEG discharges at onset as the sole manifestation lasting throughout the course of the syndrome. In some, focal paroxysms developed later. The course was benign. In our group of patients, clinical features and evolution were similar to those of typical cases of BRE. Response to valproic acid and levetiracetam was found to be particularly good.

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Electroencephalographic generalized features in idiopathic childhood focal epilepsies

Cited by 4 publications

References 23 publications

Phenotypic analysis of 303 multiplex families with common epilepsies

Phenotypic analysis of 303 multiplex families with common epilepsies

Clinical and electroencephalographic findings prior to the onset of juvenile myoclonic epilepsy: A case series

Benign rolandic epilepsy and generalized paroxysms: A study of 13 patients

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