Results 11 to 20 of about 8,257 (246)

Epileptic spasms in infants: can video-EEG reveal the disease’s etiology? A retrospective study and literature review

Frontiers in Neurology, 2023
ObjectiveEpileptic spasms are a type of seizure defined as a sudden flexion or extension predominantly of axial and/or truncal limb muscles that occur with a noticeable periodicity. Routine electroencephalogram supports the diagnosis of epileptic spasms,
Raffaele Falsaperla, Raffaele Falsaperla, Sarah Sciuto, Grete Francesca Privitera, Lucia Giovanna Tardino, Giuseppe Costanza, Alessandra Di Nora, Roberto Horacio Caraballo, Martino Ruggieri   +8 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

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

Epileptic spasms in congenital disorders of glycosylation [PDF]

Epileptic Disorders, 2017
AbstractAim. Congenital disorders of glycosylation (CDG) are a group of rare metabolic diseases, characterized by impaired glycosylation. Multisystemic involvement is common and neurological impairment is notably severe and disabling, concerning the central and peripheral nervous system. Epilepsy is frequent, but detailed electroclinical description is
Pereira, AG, Bahi-Buisson, N, Barnerias, C, Boddaert, N, Nabbout, R, de Lonlay, P, Kaminska, A, Eisermann, M   +7 more
openaire   +3 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

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

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

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 as the presenting seizure type in a patient with a new “O” of TORCH, congenital Zika virus infection

Epilepsy and Behavior Case Reports, 2019
Congenital TORCH infections are a significant cause of epileptic spasms, an infantile epileptic encephalopathy, through disruptions to several pathways in neurodevelopment. Congenital Zika virus has a similar neurotropism to other TORCH agents, and leads
Jason Lockrow, Hannah Tully, Russell P. Saneto   +2 more
doaj   +1 more source

Epileptic spasms are a feature of DEPDC5 mTORopathy [PDF]

Neurology Genetics, 2015
To assess the presence of DEPDC5 mutations in a cohort of patients with epileptic spasms.We performed DEPDC5 resequencing in 130 patients with spasms, segregation analysis of variants of interest, and detailed clinical assessment of patients with possibly and likely pathogenic variants.We identified 3 patients with variants in DEPDC5 in the cohort of ...
Carvill, GL, Crompton, DE, Regan, BM, McMahon, JM, Saykally, J, Zemel, M, Schneider, AL, Dibbens, L, Howell, KB, Mandelstam, S, Leventer, RJ, Harvey, AS, Mullen, SA, Berkovic, SF, Sullivan, J, Scheffer, IE, Mefford, HC   +16 more
openaire   +3 more sources