Results 11 to 20 of about 63,715 (255)

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   +4 more sources

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

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   +3 more sources

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   +4 more sources

Epileptic Spasms and Partial Seizures Associated with Vitamin B12 Deficiency: Case Report and Literature Review

Archives of Epilepsy, 2017
Epileptic spasms associated with vitamin B12 deficiency are rare. Epileptic spasms in addition to partial seizures due to vitamin B12 deficiency have never been reported in the literature. A 3½-month-old girl presented to clinic with partial seizures and
Uğur IŞIK, Sonay BEYATLI
doaj   +2 more sources

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   +2 more sources

Epileptic spasms relapse is associated with response latency but not conventional attributes of post‐treatment EEG [PDF]

Epilepsia Open
Objective Relapse of epileptic spasms after initial treatment of infantile epileptic spasms syndrome (IESS) is common. However, past studies of small cohorts have inconsistently linked relapse risk to etiology, treatment modality, and EEG features upon ...
Emmi Deckard, Rujuta Sathe, David Tabibzadeh, Aria Terango, Aran Groves, Rajsekar R. Rajaraman, Hiroki Nariai, Shaun A. Hussain   +7 more
doaj   +2 more sources

A New Rat Model of Epileptic Spasms Based on Methylazoxymethanol-Induced Malformations of Cortical Development [PDF]

Frontiers in Neurology, 2017
Malformations of cortical development (MCDs) can cause medically intractable epilepsies and cognitive disabilities in children. We developed a new model of MCD-associated epileptic spasms by treating rats prenatally with methylazoxymethanol acetate (MAM)
Eun-Hee Kim, Mi-Sun Yum, Minyoung Lee, Eun-Jin Kim, Woo-Hyun Shim, Tae-Sung Ko   +5 more
doaj   +2 more sources

ACTH Therapy in Epileptic Spasms without Hypsarrhythmia

Pediatric Neurology Briefs, 2005
The short and long-term effects of adrenocorticotrophic hormone (ACTH) in 30 children ages 11 to 86 months (median 29 months) with epileptic spasms (ES) without hypsarrhythmia were analyzed at Tokyo Women’s Medical University, Japan.
J Gordon Millichap
doaj   +2 more sources

Treatment efficacy for infantile epileptic spasms syndrome in children with trisomy 21 [PDF]

Frontiers in Pediatrics
BackgroundInfantile Epileptic Spasms Syndrome (IESS) is the most common epilepsy syndrome in children with trisomy 21. First-line standard treatments for IESS include adrenocorticotropic hormone (ACTH), oral corticosteroids, and vigabatrin.
Henry Chen, Henry Chen, Adam L. Numis, Adam L. Numis, Renée A. Shellhaas, John R. Mytinger, Debopam Samanta, Rani K. Singh, Rani K. Singh, Shaun A. Hussain, Danielle Takacs, Kelly G. Knupp, Li-Rong Shao, Carl E. Stafstrom   +13 more
doaj   +2 more sources

Current trends in the treatment of infantile spasms

Neuropsychiatric Disease and Treatment, 2009
Chang-Yong TsaoClinical Pediatrics and Neurology, The Ohio State University, College of Medicine, Columbus, Ohio, USAAbstract: Infantile spasms are an epilepsy syndrome with distinctive features, including age onset during infancy, characteristic ...
Chang-Yong Tsao
doaj   +1 more source