Genetic Basis of Early-onset Developmental and Epileptic Encephalopathies

SK Hwang - Journal of Interdisciplinary Genomics, 2021 - koreascience.kr
Developmental and epileptic encephalopathies are the most devastating early-onset
epilepsies, characterized by early-onset seizures that are often intractable …

Clinical manifestations and amplitude-integrated encephalogram in neonates with early-onset epileptic encephalopathy

LL Liu, XL Hou, DD Zhang, GY Sun, CL Zhou… - Chinese Medical …, 2017 - mednexus.org
Background: The patients with early-onset epileptic encephalopathy (EOEE) suffer from
neurodevelopmental delay. The aim of this study was to analyze the clinical manifestations …

A propositional AI system for supporting epilepsy diagnosis based on the 2017 epilepsy classification: Illustrated by Dravet syndrome

KL Chiang, CY Huang, LP Hsieh, KP Chang - Epilepsy & Behavior, 2020 - Elsevier
Purpose The 2017 epilepsy and seizure diagnosis framework emphasizes epilepsy
syndromes and the etiology-based approach. We developed a propositional artificial …

[HTML][HTML] Genetic-cellular epilepsy: Clues to diagnosing newborns with neonatal seizures

M Panjan, D Paro-Panjan, AS Salamon - Seizure, 2021 - Elsevier
Objective The aim of this study was to analyse clinical characteristics of newborns with
genetic-cellular epilepsy (GCE) to compare them to those of newborns with seizures with …

[PDF][PDF] Evaluation of the Frequency of Epilepsy in Pediatric Palliative Care Service.

N Harputluoğlu, Ü Yılmaz… - Journal of Tepecik …, 2023 - jag.journalagent.com
Öz Objective: Epilepsy is a disorder characterized by sudden, repetitive, non-triggered
seizures caused by abnormal and excessive electrical discharge in cortical neurons. There …

[PDF][PDF] Dysregulated Cytoplasmic FRMP Interacting Protein 1/2 in a Model of Alzheimer's Disease

X Peng - 2022 - kclpure.kcl.ac.uk
Dementia is defined as a decline in cognitive abilities severe enough to interfere with
everyday activities (Hugo and Ganguli, 2014). To date, there are four major types of …

Dravet 综合征分子遗传学研究进展

潘小平 - 癫痫与神经电生理学杂志, 2016 - cqvip.com
Dravet 综合征(Dravet syndrome, DS), 1978 年由法国医生Dravet 等首次报道,
当时命名为婴儿严重肌阵挛性癫痫(SMEI). 在Dravet 首次报道以后, 很多病例都被先后报道 …

Deletion of the RNF6 gene in a patient with epileptic encephalopathy–a case report and literature review

M Stefan, P Zapolnik, A Pyrkosz - Pediatria Polska-Polish Journal of …, 2022 - termedia.pl
Epilepsy is one of the most common neurological diseases of developmental ages, and
epileptic encephalopa thy is one of its most severe forms. The RNF6 gene encodes a protein …

[图书][B] Modeling Gene Therapy for Intractable Developmental and Epileptic Encephalopathy

OV Aimiuwu - 2021 - search.proquest.com
Childhood epileptic encephalopathies (EE) are severe neurodevelopmental diseases that
manifest in early development. EE is characterized by abnormal electroencephalographic …

SLC25A22 and Its Related Epileptic Encephalopathies

F Patanè, E Pasquetti, F Sullo, M Tosto… - Journal of Pediatric …, 2023 - thieme-connect.com
Epileptic encephalopathy is a condition in which seizures, electroencephalographic
epileptiform abnormalities lead to a progressive deterioration of brain functions causing a …