Results 21 to 30 of about 15,063 (315)

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   +3 more sources

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

Role of the Ketogenic Diet Therapy and ACTH as Second Treatments in Drug-Resistant Infantile Epileptic Spasms Syndrome. [PDF]

Nutrients
Dressler A, Bonfanti L, Trimmel-Schwahofer P, Porsche B, Bertoli S, Male C.   +5 more
europepmc   +3 more sources

Decreased cerebrospinal fluid kynurenic acid in epileptic spasms: A biomarker of response to corticosteroids

EBioMedicine, 2022
Summary: Background: Epileptic (previously infantile) spasms is the most common epileptic encephalopathy occurring during infancy and is frequently associated with abnormal neurodevelopmental outcomes.
Jingya Yan, Kavitha Kothur, Emily A. Innes, Velda X. Han, Hannah F. Jones, Shrujna Patel, Erica Tsang, Richard Webster, Sachin Gupta, Christopher Troedson, Manoj P. Menezes, Jayne Antony, Simone Ardern-Holmes, Esther Tantsis, Shekeeb Mohammad, Louise Wienholt, Ananda S. Pires, Benjamin Heng, Gilles J. Guillemin, Anna Guller, Deepak Gill, Sushil Bandodkar, Russell C. Dale   +22 more
doaj   +1 more source

Association Between Scalp High-Frequency Oscillations and Burden of Amplitudes and Epileptiform Discharges (BASED) Scores in Infantile Epileptic Spasms Syndrome. [PDF]

Biomolecules
Maeda K, Tsuboi H, Hosoda N, Fukumoto J, Fujita S, Yamaguchi S, Ichino N, Osakabe K, Sugimoto K, Furukawa G, Ishihara N.   +10 more
europepmc   +2 more sources

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

Bi-allelic GAD1 variants cause a neonatal onset syndromic developmental and epileptic encephalopathy. [PDF]

, 2020
Developmental and epileptic encephalopathies are a heterogeneous group of early-onset epilepsy syndromes dramatically impairing neurodevelopment. Modern genomic technologies have revealed a number of monogenic origins and opened the door to therapeutic ...
Alix, E, Alkaya, DU, Ashrafzadeh, F, Becker, F, Bilguvar, K, Chatron, N, de Bellescize, J, EuroEpinomics-RES consortium AR working group, Gunes, N, Hardies, K, Hussien, H, Karimiani, EG, Kok, F, Labalme, A, Lerche, H, Lesca, G, Maroofian, R, May, P, Morsy, H, Moslemi, A-R, Nabil, A, Najafi, M, Omar, T, Poulat, A-L, Ramos, L, Roselli, S, Sanlaville, D, Schmidts, M, Tajsharghi, H, Tuysuz, B, Weckhuysen, S   +30 more
core   +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

Electrographic screening for infantile epileptic spasms syndrome in a single sleep-wake cycle. [PDF]

Epilepsia
Mason JA, Juarez-Colunga E, Knupp KG.
europepmc   +3 more sources