A case of severe progressive early-onset epileptic encephalopathy: Unique GABAergic interneuron distribution and imaging

Inoue, Takeshi; Kawawaki, Hisashi; Kuki, Ichiro; Nabatame, Shin; Tomonoh, Yuko; Sukigara, Sayuri; Horino, Asako; Nukui, Megumi; Okazaki, Shin; Tomiwa, Kiyotaka; Kimura-Ohba, Shihoko; Hirose, Shinichi; Shiomi, M.; Itoh, Masayuki

doi:10.1016/j.jns.2013.01.038

Cited by 2 publications

(1 citation statement)

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“…One younger child age 1 year had a development quotient (DQ) of 91, and the youngest child of 3 month had not been tested. Inoue et al (2013) have reported a case of severe progressive early onset epileptic encephalopathy characterized by loss of inhibitory interneurons and decreased GABA receptor binding in cortex, among other changes. Animal models of cortical dysplasia have also shown reductions of inhibitory interneuron numbers.…”

Section: Encephalopathy Arising Frommentioning

confidence: 99%

Pathophysiology of epileptic encephalopathies

et al. 2013

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Summary The application of metabolic imaging, genetic analysis, and now the development of appropriate animal models has generated critical insights into the pathogenesis of epileptic encephalopathies. In this chapter we have presented ideas intended to move from the lesions associated with epileptic encephalopathies towards understanding the effects of these lesions on the functioning of the brain, specifically of the cortex. We have argued that the effects of focal lesions may be magnified through the interaction between cortical and subcortical structures, and that disruption of subcortical arousal centers regulating cortex early in life may lead to alterations of intracortical synapses that affect a critical period of cognitive development. Impairment of interneuronal function globally through the action of a genetic lesion, similarly causes widespread cortical dysfunction manifesting as increase delta slow waves on EEG and as developmental delay or arrest clinically. Finally, prolonged focal epileptic activity during sleep (as occurring in ESES) might interfere with local SWA at the site of the epileptic focus, impairing the neural processes and, possibly, the local plastic changes associated with learning and other cognitive functions. Seizures may certainly add to these pathological processes, but are likely not necessary for the development of the cognitive pathology. Nevertheless, while seizures, may be either a consequence or symptom of the underlying lesion, their effective treatment can improve outcomes as both clinical and experimental studies may suggest. Understanding their substrates may lead to novel, effective treatments for all aspects of the epileptic encephalopathy phenotype.

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Section: Encephalopathy Arising Frommentioning

confidence: 99%