Results 21 to 30 of about 63,715 (255)

Clinical characteristics of children with infantile epileptic spasms syndrome from a tertiary-care hospital in Dhaka, Bangladesh

Heliyon, 2023
Background: We describe patient characteristics and response to initial treatment in a large case series of children presenting with infantile epileptic spasms syndrome to a tertiary-care hospital with a pediatric neurology service in Bangladesh.
Christina Briscoe Abath, Narayan Chandra Saha, Seikh Azimul Hoque, Ariful Islam, Yamin Shahriar Chowdhury, Mosammat Shameem Ara Begum, Tahera Sultana Davalji Kanjiker, Christopher J. Yuskaitis, Chellamani Harini, Md Badrul Alam, Quazi Deen Mohammed, Maitreyi Mazumdar   +11 more
doaj   +1 more source

Autism and mild epilepsy associated with a de novo missense pathogenic variant in the GTPase effector domain of DNM1

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView., 2023
Abstract Dynamin 1 is a GTPase protein involved in synaptic vesicle fission, which facilitates the exocytosis of neurotransmitters necessary for normal signaling. Pathogenic variants in the DNM1 gene are associated with intractable epilepsy, often manifested as infantile spasms at onset, developmental delay, and a movement disorder, and are located in ...
Davide Mei, Elena Parrini, Claudia Bianchini, Maria Luisa Ricci, Renzo Guerrini   +4 more
wiley   +1 more source

Infantile epileptic spasms syndrome as an initial presentation in infantile choroid plexus papilloma: A case report

Frontiers in Pediatrics, 2022
We present an interesting report of a 5-month-old infant with epileptic spasms and developmental delay who presented with non-isolated ventriculomegaly in utero and whose brain magnetic resonance imaging revealed right ventricular choroid plexus ...
Faliang Zhou, Yu Li, Lixue Shen, Hongxin Yao, Xinlin Hou   +4 more
doaj   +1 more source

Epileptic spasms in individuals with Down syndrome: A review of the current literature

Epilepsia Open, 2020
Epilepsy can occur in individuals with Down syndrome (DS), with epileptic spasms representing the most frequent seizure type in this population. Epileptic spasms can have devastating consequences on the development of individuals with the condition. This
Daniel J. Kats, Katherine J. Roche, Brian G. Skotko   +2 more
doaj   +1 more source

Epileptic spasms related to neuronal differentiation factor 2 (NEUROD2) mutation respond to combined vigabatrin and high dose prednisolone therapy

BMC Neurology, 2022
Background Epileptic spasms are a devastating form of early infantile epileptic encephalopathy (EIEE) with various etiologies. Early diagnosis and a shorter lead time to treatment are crucial to stop the seizures and optimize the neurodevelopmental ...
Kullasate Sakpichaisakul, Rachata Boonkrongsak, Punjama Lertbutsayanukul, Nareenart Iemwimangsa, Sommon Klumsathian, Bhakbhoom Panthan, Objoon Trachoo   +6 more
doaj   +1 more source

Hypsarrhythmia in epileptic spasms: Synchrony in chaos [PDF]

Seizure, 2018
Hypsarrhythmia is an electroencephalographic pattern associated with epileptic spasms and West syndrome. West syndrome is a devastating epileptic encephalopathy, originating in infancy. Hypsarrhythmia has been deemed to be the interictal brain activity, while the electrodecremental event associated with the spasms is denoted as the ictal event.
Vera Nenadovic, Robyn Whitney, Jason Boulet, Miguel A. Cortez   +3 more
openaire   +2 more sources

Case report: De novo variant of SETD1A causes infantile epileptic spasms syndrome

Frontiers in Neurology, 2023
Infantile epileptic spasms syndrome (IESS) is one of the most common epileptic encephalopathies of infancy, with typical clinical features defined by a triad of epileptic spasms, hypsarrhythmia, and developmental delay.
Mingping Lan, Yanjuan Wang, Sixiu Li, Lili Zhao, Ping Liu, Wenguang Hu   +5 more
doaj   +1 more source

Management of Infantile Epileptic Spasms Syndrome: A survey of US pediatric hospitals. [PDF]

Epilepsia Open
Abstract Objective To evaluate the management practices of Infantile Epileptic Spasms Syndrome (IESS) across tertiary pediatric hospitals in the United States using a survey‐based approach. Methods A 21‐question survey focused on management setting, work‐up, follow‐up and treatment was created and sent to 45 member institutions of the Pediatric ...
Katyayan A, Briscoe C, Bhalla S, Bhatia S, Erdemir G, Harini C, Hunter SE, Mytinger JR, Nie D, Pasupuleti A, Patel SH, Samanta D, Karamian AS, Singh A, Sirsi D, Takacs DS, Hussain SA.   +16 more
europepmc   +2 more sources

Infantile Spasms in Remission May Reemerge as Intractable Epileptic Spasms [PDF]

Epilepsia, 2003
Summary: Background:West syndrome consists of infantile spasms with hypsarrhythmia and is perceived as a disorder of infants.Methods:We describe 10 patients with West syndrome with spasms that remitted, started again, and persisted (followed up for 8–25 years).Results:In all, West syndrome developed at younger than 17 months (five cryptogenic, six ...
Peter, Camfield, Carol, Camfield, Anne, Lortie, Husam, Darwish   +3 more
openaire   +2 more sources

A conundrum of West syndrome, behavioural problems and parental expressed emotions: a case report

General Psychiatry, 2020
West syndrome (WS) is the most common epileptic syndrome in infancy characterised by epileptic spasms, hypsarrhythmia and neurodevelopmental problems. Epileptic spasms remain in many ways a conundrum, and the ideal intervention, as well as how to screen ...
Yogender Kumar Malik, Nidhi Chauhan, Akhilesh Sharma, Susanta Padhy   +3 more
doaj   +1 more source