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Quoted phrase not found in phrase index: "Developmental and epileptic encephalopathy 104"
Page 1
KCNQ2-Related Epilepsy: Genotype-Phenotype Relationship with Tailored Antiseizure Medication (ASM)-A Systematic Review.
Neuropediatrics. 2023 Oct;54(5):297-307. doi: 10.1055/a-2060-4576. Epub 2023 Mar 22.
Neuropediatrics. 2023.
PMID: 36948217
BACKGROUND: Autosomal dominant mutations of the KCNQ2 gene can cause two epileptic disorders: benign familial neonatal seizures (BFNS) and developmental epileptic encephalopathy (DEE). ...We collected the data from 194 patients. All 29 articles were re …
BACKGROUND: Autosomal dominant mutations of the KCNQ2 gene can cause two epileptic disorders: benign familial neonatal seizures (BFNS …
CUL4B-associated epilepsy: Report of a novel truncating variant promoting drug-resistant seizures and systematic review of the literature.
Della Vecchia S, Lopergolo D, Trovato R, Pasquariello R, Ferrari AR, Bartolini E.
Della Vecchia S, et al.
Seizure. 2023 Jan;104:32-37. doi: 10.1016/j.seizure.2022.11.014. Epub 2022 Nov 29.
Seizure. 2023.
PMID: 36476360
Free article.
Although seizures have been formerly reported, their clinical semiology, EEG features and long-term outcome are largely unknown. PURPOSE: This study aims to expand knowledge on epilepsy associated with Cabezas syndrome and to understand whether different types of variants …
Although seizures have been formerly reported, their clinical semiology, EEG features and long-term outcome are largely unknown. PURPOSE: Th …
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