Results 121 to 130 of about 1,226,813 (207)

The efficacy and safety of the ketogenic diet in infantile epileptic spasm syndrome: a meta-analysis

Seizure: European Journal of Epilepsy
To systematically evaluate the efficacy and safety of the ketogenic diet (KD) in treating infantile epileptic spasm syndrome (IESS).A comprehensive search of electronic databases was conducted to identify prognostic studies on the use of KD for IESS.
CaoXue Zuo, KangJie Xu, Kun Ni, YuXin Xiang, Yang Wang, Zhisheng Liu, Dan Sun   +6 more
openaire   +2 more sources

Impact of vigabatrin on risk of relapse of infantile spasms

Epilepsia Open, EarlyView.
Abstract Objective Vigabatrin is an effective treatment for infantile epileptic spasms syndrome (IESS), but relapse remains a clinical challenge. The ideal dose and duration of treatment after response are unknown. We set out to identify treatment‐related predictors of IESS relapse after initial vigabatrin response. Methods We conducted a retrospective
Yaretson I. Carmenate, Hayoung E. Ahn, Haley R. Peters, Hiroki Nariai, Rajsekar R. Rajaraman, Shaun A. Hussain   +5 more
wiley   +1 more source

Movement Disorders in Developmental and Epileptic Encephalopathies

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Monogenic developmental and epileptic encephalopathies (DEE) frequently feature co‐occurring movement disorders. Gene discovery has expanded epilepsy‐dyskinesia syndromes (EDS) from classic associations such as stereotypies in Rett syndrome to PRRT2‐related infantile seizures with paroxysmal dyskinesia and crouched gait in SCN1A ...
Shekeeb Mohammad, Darius Ebrahimi‐Fakhari, Hugo Morales‐Briceno   +2 more
wiley   +1 more source

A novel pathogenic variant causing POU3F3-related neurodevelopmental disorder in a child presenting with infantile epileptic spasms syndrome: Expanding the epileptic phenotype

Purpose: Pathogenic variants in the POU3F3 gene are responsible for an ultra-rare neurogenetic disorder, characterized by a combination of neuropsychiatric and systemic manifestations.
Gaetano Terrone, Roberta Russo, Emilia Cirillo, Immacolata Andolfo, Selene Votta, Maria Francesca Fiorile, Carmela Bravaccio, Salvatore Aiello, Chiara Paolella, Francesca Ripoli   +9 more
core   +1 more source

Data‐Driven Insights into Hyperkinetic Disorders in Neurodevelopmental Syndromes and Epileptic Encephalopathies

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Childhood‐onset hyperkinetic movement disorders occur in a range of genetic conditions. Recently, there has been an increase in recognition of hyperkinetic movement disorders, mainly dystonia, chorea and dyskinesia, with monogenic conditions associated with neurodevelopmental delay (NDD) and also with developmental and epileptic ...
Hugo Morales‐Briceño, Shekeeb S. Mohammad, Rajeshwar Reddy Angiti, Velda Han, Michel Tchan, Russell C. Dale, Victor S.C. Fung   +6 more
wiley   +1 more source

Deep learning-based real-time seizure detection and multi-seizure classification on pediatric EEG

Frontiers in Neurology
Background and objectiveTo develop a reliable and accurate seizure detection method using deep learning models capable of detecting and classifying multiple seizure types in real time.MethodsWe retrospectively collected electroencephalography (EEG ...
Hyewon Jeong, Kwanhyung Lee, Kwanhyung Lee, Seyun Kim, Hoon-Chul Kang, Donghwa Yang, Donghwa Yang   +6 more
doaj   +1 more source

Update on Selected Adverse Events of Concern Following Immunization With Acellular Pertussis Vaccines, a Narrative Review

Acta Paediatrica, EarlyView.
ABSTRACT Aim To provide an update paper on evidence of adverse events of concern following immunization (AEFI) with pertussis vaccines, focusing primarily on acellular (aP) vaccines. Methods Evidence was synthesised from epidemiological studies, systematic reviews over recent decades, expert interpretations in reviews from relevant research teams and ...
Lennart Nilsson, Jann Storsaeter
wiley   +1 more source

Progress in the Diagnosis and Treatment of Infantile Epileptic Spasm Syndrome

罕见病研究
Infantile epileptic spasm syndrome (IESS) is a new concept proposed recently. IESS is a unique and age-specific refractory epilepsy syndrome. The recent advances in molecular biology, neuroimmunology and the in-depth study of anti-epileptic mechanism in antiepileptic drugs have led to the achievements in the definition and treatment of infantile ...
ZHENG Lu, YANG Ting, CHEN Chaoyang, WEI Ran, ZHANG Xuanling, MA Yijie, ZHOU Ying   +6 more
openaire   +1 more source

A New Case of Lethal Congenital Contracture Syndrome Type 3 With Hyperinsulinism and Optic Atrophy

Clinical Genetics, EarlyView.
PIP5K1C‐related lethal congenital contracture syndrome with hyperinsulinism and optic atrophy. ABSTRACT Lethal congenital contracture syndrome 3 (LCCS3, MIM #611369) is a rare autosomal recessive neuromuscular disorder caused by biallelic loss‐of‐function (LOF) variants in PIP5K1C, reported in only two families to date.
Tameemi Abdalla Moady, Hadar Hulin Ma'ayan, Michal Cohen, Karin Weiss   +3 more
wiley   +1 more source

Congenital Zika Syndrome and Infantile Spasms: Case Series Study

, 2018
Recently described, the congenital Zika syndrome caused by the Zika virus has many features of other congenital infections. This case series study reports 22 infants with congenital Zika syndrome in Brazil who developed infantile spasms during their ...
Lucas V. Alves, Patrícia G. Bezerra, Maria J. G. Mello, João Guilherme Bezerra Alves   +3 more
core   +1 more source