Results 121 to 130 of about 67,226 (263)

Management of Infantile Epileptic Spasms Syndrome: A survey of US pediatric hospitals

Epilepsia Open, EarlyView.
Abstract Objective To evaluate the management practices of Infantile Epileptic Spasms Syndrome (IESS) across tertiary pediatric hospitals in the United States using a survey‐based approach. Methods A 21‐question survey focused on management setting, work‐up, follow‐up and treatment was created and sent to 45 member institutions of the Pediatric ...
Akshat Katyayan, Christina Briscoe, Sonam Bhalla, Sonal Bhatia, Gozde Erdemir, Chellamani Harini, Senyene E. Hunter, John R. Mytinger, Duyu Nie, Archana Pasupuleti, Shital H. Patel, Debopam Samanta, Amanda Sandoval Karamian, Avantika Singh, Deepa Sirsi, Danielle S. Takacs, Shaun A. Hussain   +16 more
wiley   +1 more source

The genetic architecture of epilepsy across molecular mechanisms and clinical heterogeneity

Epilepsia Open, EarlyView.
Abstract Epilepsy comprises a highly heterogeneous group of neurological disorders unified by a persistent predisposition to recurrent seizures, yet driven by remarkably diverse genetic, molecular, and network‐level mechanisms. Advances in genomic technologies have revealed that epilepsy arises from a multilayered genetic architecture encompassing rare
Mohammad Reza Seyedtaghia, Jina Babanzadeh, Marcello Scala, Lorenzo Perilli, Pasquale Striano   +4 more
wiley   +1 more source

Phenotype‐guided etiologic workup in a prospective cohort of 144 adults with developmental and epileptic encephalopathy

Epilepsia Open, EarlyView.
Abstract Objectives Adults with developmental and epileptic encephalopathies (DEEs) often enter adult neurology care without etiologic clarification because of incomplete transition from pediatric services, outdated investigations, and attenuation of childhood electro‐clinical features over time.
Giuseppe d’Orsi, Umberto Costantino, Maria Teresa Di Claudio, Carmela Pia Ferro, Pietro Palumbo, Mario Benvenuto, Massimiliano Copetti, Leonardo D'Agruma, Massimo Carella, Marco Castori, Orazio Palumbo   +10 more
wiley   +1 more source

Tuberous Sclerosis Complex

The Keio Journal of Medicine
Tuberous sclerosis complex (TSC) is an autosomal dominant inherited disease characterized by systemic hamartomas, neuropsychiatric symptoms known as TAND (TSC-associated neuropsychiatric disorders), and vitiligo. These symptoms are attributed to the constant activation of mechanistic target of rapamycin complex 1 (mTORC1) caused by genetic mutations in
openaire   +3 more sources

Long‐term developmental outcome in infantile epileptic spasms syndrome after high‐dose prednisolone and vigabatrin treatment

Epilepsia Open, EarlyView.
Abstract Objective To evaluate long‐term developmental outcomes and identify independent predictors of favorable developmental outcomes at 3 years of age in children with infantile epileptic spasms syndrome (IESS) treated with a standardized stepwise vigabatrin and high‐dose prednisolone protocol.
Soyoung Jang, Hui Jin Shin, Se Hee Kim, Joon Soo Lee, Ara Ko, Hoon‐Chul Kang   +5 more
wiley   +1 more source

Astrocyte subtype‐specific alterations in the dentate gyrus of individuals with mesial temporal lobe epilepsy

Epilepsia Open, EarlyView.
Abstract Objective Epilepsy affects approximately 50 million people worldwide and, although primarily attributed to neuronal dysfunction, increasing evidence highlights a critical role of glial cells, particularly astrocytes, in the pathophysiological mechanisms.
Chiara Lötzsch, Jakob Johann Schmidt, Daniel Delev, Roland Coras, Ingmar Blümcke, Ruth Beckervordersandforth   +5 more
wiley   +1 more source

Integrated Transcriptomic and Phytohormone Metabolomic Analyses Reveal Distinct Molecular States Associated with PSTVd-Induced Potato Tuber Cracking and Knob-like Protuberances at Tuber Eyes. [PDF]

Plants (Basel)
Li G, Hussain W, Pan T, Chen Y, Li J, Zeng Y, Zhou Y, Lv D.   +7 more
europepmc   +1 more source

Effectiveness and safety of cannabidiol in adult patients with epilepsy: A multicenter, retrospective study

Epilepsia Open, EarlyView.
Abstract Objective Cannabidiol (CBD) has demonstrated promising effectiveness and tolerability as adjunctive treatment in patients with severe childhood epilepsies. This study investigated the effectiveness and tolerability of CBD in adults with a history of Dravet syndrome (DS), Lennox–Gastaut syndrome (LGS), or tuberous sclerosis complex (TSC ...
Sara Sánchez‐Gamino, María Isabel Chamorro Muñoz, Pedro J. Serrano‐Castro, Pablo Hernández‐Vitorique, Lucía Rodríguez Jiménez, Yolanda López Moreno, Pablo Cabezudo‐García, Guillermina García Martín   +7 more
wiley   +1 more source

Integrated Transcriptomic and Metabolomic Analysis of Starch Biosynthesis in Different Spatial Regions of Tetraploid Potato Tubers. [PDF]

Biology (Basel)
Lian H, Zhang C, Ye G, Su W, Yang S, Zhou Y, Ma Y, Wang J.   +7 more
europepmc   +1 more source

Impact of vigabatrin on risk of relapse of infantile spasms

Epilepsia Open, EarlyView.
Abstract Objective Vigabatrin is an effective treatment for infantile epileptic spasms syndrome (IESS), but relapse remains a clinical challenge. The ideal dose and duration of treatment after response are unknown. We set out to identify treatment‐related predictors of IESS relapse after initial vigabatrin response. Methods We conducted a retrospective
Yaretson I. Carmenate, Hayoung E. Ahn, Haley R. Peters, Hiroki Nariai, Rajsekar R. Rajaraman, Shaun A. Hussain   +5 more
wiley   +1 more source