Recurrent copy number variants were reported in association with ESES, such as Xp22.12 deletion, 16p13 deletion, 15q11.2-13.1 duplication, 3q29 duplication, 11p13 duplication, 10q21.3 deletion, 3q25 deletion, and 8p23.3 deletion. Among monogenic mutations ( SCN2A, SLC9A6, DRPLA/ ATN1, Neuroserpin/SRPX2, OPA3, KCNQ2, KCNA2, GRIN2A, CNKSR2, SLC6A1, KCNB1), GRIN2A mutations, with possible dysfunction of NMDA-receptor mediated signaling, have most commonly linked with ESES. Recently several genetic etiologies (monogenic mutations or copy number variants) have been correlated with the development of ESES.
In a case-control study, 14% of the patients with epilepsy and sleep activated EEG had early developmental lesion involving thalami such as stroke, periventricular leukomalacia, and cortical malformation however, only 2% of the patients had a thalamic lesion in the control group (patients with epilepsy but not with sleep activated EEG). An early developmental lesion, such as perinatal infarct involving thalamus, has been particularly correlated with the development of ESES. This activity reviews the evaluation and management of ESES and highlights the role of the healthcare team in evaluating and treating patients with this condition.ĭifferent etiologies, both with or without structural abnormalities of the brain, have been associated with ESES.
#Status epilepticus series#
The existing treatment paradigm is based on uncontrolled studies and case series and primarily focused use of traditional antiepileptic drugs (AEDs), including benzodiazepines, corticosteroids, epilepsy surgery, and other non-pharmacologic therapies(IVIG, the ketogenic diet. Typically children, between 2 and 12 years of age with a peak between 3 and 5 years, present with infrequent seizures (focal and/or generalized) and stagnation or regression of the development. Different etiologies, both with or without structural abnormalities of the brain, have been associated with ESES. Electrical status epilepticus in sleep (ESES), a childhood-onset epileptic encephalopathy, is characterized by epilepsy, cognitive regression, and marked activation of epileptiform activity during non-rapid eye movement (NREM) sleep to produce an electroencephalography (EEG) pattern of near-continuous spike-wave discharges.
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