Results 31 to 40 of about 8,267 (258)

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

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

The genetic landscape and classification of infantile epileptic spasms syndrome requiring surgery due to suspected focal brain malformations. [PDF]

Brain Commun
Coleman M, Wang M, Snell P, Lee WS, D'Arcy C, Mignone C, Pope K, Gillies G, Maixner W, Wray A, Harvey AS, Simons C, Leventer RJ, Stephenson SEM, Lockhart PJ, Howell KB.   +15 more
europepmc   +2 more sources

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

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   +3 more sources

Surgical outcomes of drug-refractory infantile epileptic spasms syndrome and related prognostic factors: a retrospective study. [PDF]

Acta Epileptol
Cao X, Ding X, Zhu F, Chen L, Chen Y, Sun Y, Li L, Tan Z, Li C, Yao Y, Su Q, Cao D.   +11 more
europepmc   +2 more sources

Epileptic spasms with terror during sleep in CDKL5 encephalopathy [PDF]

SLEEP Advances, 2022
AbstractStudy ObjectivesTo describe early diagnostic clues in Cyclin-Dependent Kinase-Like 5 (CDKL5) refractory encephalopathy, to improve treatment strategies.MethodsWe retrospectively studied 35 patients (25 females, 10 males) with CDKL5 gene mutations or deletion, focusing on their early seizure semiology, the electroencephalogram (EEG) pattern, the
Melikishvili, Gia, Sharkov, Artem, Gachechiladze, Tamar, Tomenko, Tatiana, Pivovarova, Alexandra, Volkov, Iosif, Andrade, Maria-Theresa, Castellanos, Abril, Bienvenu, Thierry, Dulac, Olivier, Roisman, Gabriel, Gataullina, Svetlana   +11 more
openaire   +3 more sources

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

EPILEPTIC SPASMS

Русский журнал детской неврологии, 2015
Epileptic spasms are epileptic seizures with sudden flexion/extension or of the mixed flexion and extension type, mainly involving the proximal and truncal muscles, that are normally longer than myoclonic seizures but shorter than tonic seizures, and ...
K. Yu. Mukhin, M. B. Mironov
doaj   +1 more source