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Article

Inherited Developmental and Epileptic Encephalopathies

3 Nov 2021

Abstract excerpt

Epileptic encephalopathies often have a genetic etiology. The epileptic activity itself exerts a direct detrimental effect on neurodevelopment, which may add to the cognitive impairment induced by the underlying mutation ("developmental and epileptic encephalopathy"). The focus of this review is on inherited syndromes. The phenotypes of genetic disorders affecting ion channels, metabolic signalling, membrane...

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PMID: 34842787
DOI: 10.3390/neurolint13040055

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