Key result
The article presents a brief literature review and a personal clinical observation of developmental and epileptic encephalopathy caused by KCNQ2 gene mutation.
Why the study?
Developmental and epileptic encephalopathy caused by KCNQ2 mutation was identified as an independent nosological form in the 2022 International League Against Epilepsy classification.
Case Report
The article reviews and presents a clinical observation of developmental and epileptic encephalopathy caused by KCNQ2 gene mutation.
Answers are grounded in this paper and cite their sources.
Single KCNQ2 encephalopathy case adds no clinical guidance; leaves open genotype-specific therapy trials.
Current classification of epileptic syndromes proposed in 2022 by the International League Against Epilepsy, developmental and epileptic encephalopathy (DEE) caused by mutation in the KCNQ2 gene is identified as an independent nosological form. Alternative names for this disease are DEE type 7 or early infantile epileptic encephalopathy type 7 (OMIM: 613720). The article presents a brief literature review on the topic as well as our personal clinical observation of this rare pathology.
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Малов et al. (2023) conducted a case report in Developmental and epileptic encephalopathy (DEE) caused by KCNQ2 gene mutation. The article presents a brief literature review and a personal clinical observation of developmental and epileptic encephalopathy caused by KCNQ2 gene mutation.
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