Results 71 to 80 of about 1,226,813 (207)

Benign myoclonus of early infancy or benign non-epileptic infantile spasms

, 1986
Lombroso and Fejerman (1983) described a syndrome which shares with West syndrome the clinical features of flexion spasm with onset in early infancy. However the syndrome differs from West syndrome in the absence of mental and psycho-motor involvement ...
M. Bureau, G. Gobbi, C. Dravet, J. Roger, DALLA BERNARDINA, Bernardo, N. Giraud   +5 more
core   +1 more source

Epileptic spasms in PPP1CB-associated Noonan-like syndrome: a case report with clinical and therapeutic implications

BMC Neurology, 2018
Background Noonan syndrome-like disorder with loose anagen hair-2 (NSLH2) is an extremely rare disease caused by a heterozygous mutation in the PPP1CB gene on chromosome 2p23.
Chien-Heng Lin, Wei-De Lin, I-Ching Chou, Inn-Chi Lee, Hueng-Chuen Fan, Syuan-Yu Hong   +5 more
doaj   +1 more source

Col4a2 Mutations Contribute to Infantile Epileptic Spasm Syndrome and Neuroinflammation

International Journal of Medical Sciences
There are more than 70 million people worldwide living with epilepsy, with most experiencing the onset of epilepsy in childhood. Despite the availability of more than 20 anti-seizure medications, approximately 30% of epilepsy patients continue to experience unsatisfactory treatment outcomes.
Hu, Chunhui, Liu, Deying, Wang, Hua
openaire   +2 more sources

Raising resilience: A parenting intervention for families affected by childhood epilepsy

Epilepsia, EarlyView.
Abstract Objective Despite behavioral concerns reported among children with epilepsy, evidence‐based family‐focused interventions designed for this population remain limited. The objectives of this study were to characterize behavioral concerns and parent mental health needs in families of children with epilepsy relative to children with non‐epileptic ...
Samantha J. Feldman, Bianca C. Bondi, Chantal C. Cheung, Heather Olivieri, Tricia S. Williams   +4 more
wiley   +1 more source

A prospective natural history study protocol for clinical trial readiness in synaptic disorders

Epilepsia, EarlyView.
Abstract Objective STXBP1‐related disorder (STXBP1‐RD) and SYNGAP1‐related disorder (SYNGAP1‐RD) are two common genetic synaptopathies that are associated with epilepsy, developmental delay, intellectual developmental disorder, and behavioral problems.
Jillian L. McKee, Sarah M. Ruggiero, Kristin Cunningham, JoeyLynn Coyne, Ian McSalley, Michael C. Kaufman, Bintou Bane, Torrey Chisari, Jonathan Toib, Carlyn Glatts, Sarah Tefft, Julie M. Orlando, Viveknarayanan Padmanabhan, Alexander K. Gonzalez, Alicia Harrison, Charlene Woo, Stephanie A. Zbikowski, Rency Dhaduk, Johanna Mercurio, Macie McCarthy, Jan H. Magielski, Zachary Grinspan, Megan Abbott, Juliet Knowles, Hsiao‐Tuan Chao, Katherine Xiong, Elizabeth Berry‐Kravis, Sepideh Tabarestani, J. Michael Graglia, Kathryn Helde, Virginie McNamar, Charlene Son Rigby, James Goss, Scott Demarest, Andrea Miele, Benjamin Prosser, Michael J. Boland, Samuel R. Pierce, Ingo Helbig   +38 more
wiley   +1 more source

Consanguinity and treatment strategy determine seizure outcome and mortality in infantile epileptic spasms syndrome in Azerbaijan

Objective: To determine the etiology of Infantile Epileptic Spasms Syndrome (IESS) in Azerbaijan, and to evaluate treatment response and outcome. Methods: For the seventy children referred for ongoing IESS over a 3-year period, we studied medical history,
Dulac, Olivier, Munir, Kerim, Isayev, Cavid, Salayev, Kamran, Williams, David A, Houlden, Henry, Guliyeva, Ulviyya, Guliyeva, Sughra, Tatishvili, Nana Nino, HIZ, AYŞE SEMRA, Kaiyrzhanov, Rauan   +10 more
core   +3 more sources

Data_Sheet_1_Case report: De novo variant of SETD1A causes infantile epileptic spasms syndrome.PDF

, 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.
Wenguang Hu (12329533), Yanjuan Wang (380267), Lili Zhao (442802), Mingping Lan (17203483), Sixiu Li (7827485), Ping Liu (156158)   +5 more
core   +1 more source

WONOEP appraisal: Biomarkers and treatment strategies beyond the synapse

Epilepsia, EarlyView.
Abstract Epilepsy is a heterogeneous neurological disorder affecting more than 70 million people worldwide, posing significant challenges for clinicians due to its complex etiology, diverse manifestations, variable treatment responses, and the inability to predict seizures or disease onset reliably.
Mirte Scheper, Zining Liu, Aristea S. Galanopoulou, Gernot Hlauschek, Benjamin Sinclair, Wai Lam Leung, Stefanie Dedeurwaerdere, Elisabeth Doran, Solomon L. Moshé, David C. Henshall, Ozlem Akman, Pablo M. Casillas‐Espinosa   +11 more
wiley   +1 more source

Levetiracetam in the treatment of infantile spasms

An 11-month-old infant with a 5-month history of seizures and a 3-month history of infantile spasms is described. EEG showed epileptic encephalopathy. The infantile spasms were resistant to treatment with clobazam.
Lawlor KM, Devlin AM
core   +5 more sources

Adapting Action Recognition Neural Networks for Automated Infantile Spasm Detection

IEEE Transactions on Neural Systems and Rehabilitation Engineering
Infantile spasms are a severe epileptic syndrome characterized by short muscular contractions lasting from 0.5 to 2 seconds. They are often misdiagnosed due to their atypical presentation, and treatment is frequently delayed, leading to stagnation or ...
Samuel Diop, Nouha Essid, Francois Jouen, Jean Bergounioux, Imen Trabelsi   +4 more
doaj   +1 more source