Results 21 to 30 of about 149,294 (247)

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

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

TUBA1A-related tubulinopathy associated with the infantile epileptic spasms syndrome and atypical absence seizures. [PDF]

Epileptic Disord
Patients with TUBA1A pathogenic variants may present with complex brain malformation, intellectual disability, and epilepsy. The epilepsy phenotype is varied, ranging from mild to severe, with epileptic spasms and focal seizures being the most common ...
Ng AC, Scantlebury MH.
europepmc   +2 more sources

A model-based cost-effectiveness estimates of hormonal therapy in Indian children with infantile epileptic spasms syndrome. [PDF]

Epilepsia Open
Due to the conflicting evidence and expected regional therapeutic variations for cost‐effectiveness in children with infantile epileptic spasms syndrome (IESS), this study assessed treatment effectiveness, safety, Health‐Related Quality of Life (HRQoL ...
Devi N, Madaan P, Bharti SK, Sahu JK, Bansal D.   +4 more
europepmc   +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

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

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