Early Infantile Epileptic Encephalopathy With Suppression Burst: Ohtahara Syndrome

Clarke, Michael A.; Gill, JM; Noronha, M. J.; McKinlay, Ian

doi:10.1111/j.1469-8749.1987.tb02512.x

Cited by 55 publications

(15 citation statements)

References 20 publications

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“…Originally described as an early infantile epileptic encephalopathy with suppression-bursts (Ohtahara et al, 1976), OS is one of the earliest seizures in its presentation (Clarke et al, 1987). Among 82 patients reported in 27 different publications (Robain and Dulac, 1992; Miller et al, 1998; Ohno et al, 2000; Ohtsuka et al, 2000; Krasemann et al, 2001; Quan et al, 2001; Trinka et al, 2001; Krsek et al, 2002; Yamatogi and Ohtahara, 2002; Hmaimess et al, 2005; Kato et al, 2007, 2010, 2013; Saitsu et al, 2008, 2010, 2012a,b; Absoud et al, 2010; Cazorla et al, 2010; Fullston et al, 2010; Giordano et al, 2010; Seo et al, 2010; Choi et al, 2011; Eksioglu et al, 2011; Milh et al, 2011; Nakamura et al, 2013; Touma et al, 2013), the first seizure was seen within 3 weeks of life ( Table 4 ).…”

Section: Slack Channels In Cognitive Disordersmentioning

confidence: 99%

Emerging role of the KCNT1 Slack channel in intellectual disability

Kim

Kaczmarek

2014

Front. Cell. Neurosci.

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The sodium-activated potassium KNa channels Slack and Slick are encoded by KCNT1 and KCNT2, respectively. These channels are found in neurons throughout the brain, and are responsible for a delayed outward current termed IKNa. These currents integrate into shaping neuronal excitability, as well as adaptation in response to maintained stimulation. Abnormal Slack channel activity may play a role in Fragile X syndrome, the most common cause for intellectual disability and inherited autism. Slack channels interact directly with the fragile X mental retardation protein (FMRP) and IKNa is reduced in animal models of Fragile X syndrome that lack FMRP. Human Slack mutations that alter channel activity can also lead to intellectual disability, as has been found for several childhood epileptic disorders. Ongoing research is elucidating the relationship between mutant Slack channel activity, development of early onset epilepsies and intellectual impairment. This review describes the emerging role of Slack channels in intellectual disability, coupled with an overview of the physiological role of neuronal IKNa currents.

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Section: Slack Channels In Cognitive Disordersmentioning

confidence: 99%

Emerging role of the KCNT1 Slack channel in intellectual disability

Kim

Kaczmarek

2014

Front. Cell. Neurosci.

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“…The prognosis in both syndromes is poor, with severe psychomotor retardation and intractable epilepsy; almost half die early. Most survivors of Ohtahara syndrome evolve to West syndrome with hypsarrhythmia, or later to LGS (Clarke et al., 1987) with a poor prognosis.…”

Section: Neonatal Periodmentioning

confidence: 99%

Epileptic encephalopathies (including severe epilepsy syndromes)

Covanis

2012

Epilepsia

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SUMMARYEpileptic encephalopathies represent a group of devastating epileptic disorders that appear early in life and are characterized by pharmacoresistant generalized or focal seizures, persistent severe electroencephalography (EEG) abnormalities, and cognitive dysfunction or decline. The ictal and interictal epileptic discharges are age-specific and are the main etiologic factors causing cognitive deterioration. This is most obvious in the idiopathic group. In the symptomatic group, the most common causes are structural, congenital, or acquired and rarely some metabolic disorders. In certain cases, clinical and EEG abnormalities persist and may evolve from one type to another as the child grows older. Various factors trigger and sustain the underlying pathophysiologic process and the ongoing epileptic and epileptiform activity during the most critical periods of brain maturation, perpetuating their deleterious effect on the brain. Immune-mediated mechanisms may have a role, suggested by certain encephalopathies responding to immune-modulating treatments and by the finding of various autoimmune antibodies. The chance of a better cognitive outcome improves with early diagnosis and treatment that is appropriate and effective. Current antiepileptic drugs are, in general, not effective: we urgently need new trials in this very special epileptic category. This article briefly reviews the most common epileptic encephalopathies and analyzes the most important clinical issues.

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“…Nöbetlerin %75'i yaşamın birinci ayında, diğerleri ikinci ve üçüncü aylarda başlamakta, yayımlanmış sekiz kriptojenik olgunun dördünde ise intrauterin başlama şüphesi bulunmaktadır. [5] Altta yatan neden heterojen olup birçok olguda hemimegalansefali, porensefali, Şekil 1. Olgunun EEG'sindeki börst-süpresyon paterni ile birlikte desenkronizasyon gösteren tonik spazmlarının görüntüsü.…”

Section: Discussionunclassified

A Case Report Of A Newborn With Early Infantile Epileptic Encephalopathy And West Syndrome In Follow-Up

Karagöl¹,

Özkan²,

Okumuş³

et al. 2012

Istanbul Tip Derg

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Erken infantil epileptik ensefalopati (Ohtahara sendromu), hayatın ilk aylarında ortaya çıkan ve sık tekrarlayan tonik nöbetlerle kendini gösteren nadir epileptik ensefalopatidir. En önemli interiktal EEG bulgusu uyku ve uyanıklıkta ortaya çıkan börst-süpresyon paternidir. Burada yenidoğan döneminde erken infantil epileptik ensefalopati ve izleminde West sendromu tanısı alan bir olgu sunuldu. Yaşamın erken döneminde başlayan dirençli nöbetler, ağır klinik ve EEG bulguları ile seyreden erken infantil epileptik ensefalopati ve izleminde West sendromu birlikteliği nadir görülmesi nedeni ile klinik yaklaşımda hatırlanmalıdır. Anahtar sözcükler: Erken infantil epileptik ensefalopati; Ohtahara sendromu; West sendromu; yenidoğan.

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Early Infantile Epileptic Encephalopathy With Suppression Burst: Ohtahara Syndrome

Cited by 55 publications

References 20 publications

Emerging role of the KCNT1 Slack channel in intellectual disability

Emerging role of the KCNT1 Slack channel in intellectual disability

Epileptic encephalopathies (including severe epilepsy syndromes)

A Case Report Of A Newborn With Early Infantile Epileptic Encephalopathy And West Syndrome In Follow-Up

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