Results 81 to 90 of about 1,226,813 (207)

Epilepsy‐associated SCN2A‐L1342P mutation drives network hyperexcitability and widespread transcriptomic changes in human cortical organoids

Epilepsia, EarlyView.
Abstract Objective SCN2A pathogenic mutations, such as the recurrent heterozygous Nav1.2‐L1342P, are monogenic causes of epilepsy. In this human‐induced pluripotent stem cell–derived model system, we aim to investigate the molecular and cellular mechanisms underlying SCN2A‐L1342P‐associated pathology. Methods Using a human male induced pluripotent stem
Maria I. Olivero‐Acosta, Morgan Robinson, Zhefu Que, Zaiyang Zhang, Karen V. Salazar‐Salazar, Hope Elizabeth Harlow, Vinayak Shankar, Seoyeon Hong, Muhan Wang, Conrad M. Otterbacher, Hina Kadono, Manasi Halurkar, Harish Kothandaraman, Nadia Atallah Lanman, Trang Nguyen, Kyle Wettschurack, Benjamin Zirkle, Layan Yunis, Ningren Cui, Xiaoling Chen, Jingliang Zhang, Jiaxiang Wu, William C. Skarnes, Chongli Yuan, Feng Guo, Megan Abbott, Yang Yang   +26 more
wiley   +1 more source

Infantile Spasms in Pediatric Down Syndrome: Potential Mechanisms Driving Therapeutic Considerations

Children
Infantile spasms are common in Down Syndrome (DS), but the mechanisms by which DS predisposes to this devastating epilepsy syndrome are unclear.
Carl E. Stafstrom, Li-Rong Shao
doaj   +1 more source

Refining diagnostic boundaries and electroclinical profiles of Lennox–Gastaut syndrome through unsupervised clustering

Epilepsia, EarlyView.
Abstract Objective Lennox–Gastaut syndrome (LGS) is a developmental and epileptic encephalopathy defined by polymorphic seizures, intellectual disability (ID), and characteristic electroencephalographic (EEG) patterns. The applicability and biological validity of current electroclinical criteria remain debated.
Emanuele Cerulli Irelli, Marco Perulli, Maria S. Borioni, Anna Falco, Adolfo Mazzeo, Enrico Cocchi, Maria L. Gambardella, Alessandra Morano, Michela Quintiliani, Maria Picilli, Anna T. Giallonardo, Carlo Di Bonaventura, Domenica I. Battaglia   +12 more
wiley   +1 more source

IGF-1 impacts neocortical interneuron connectivity in epileptic spasm generation and resolution

Neurotherapeutics
Little is known about the mechanisms that generate epileptic spasms following perinatal brain injury. Recent studies have implicated reduced levels of Insulin-like Growth Factor 1 (IGF-1) in these patients’ brains.
Carlos J. Ballester-Rosado, John T. Le, Trang T. Lam, Anne E. Anderson, James D. Frost, Jr., John W. Swann   +5 more
doaj   +1 more source

An Unusual Presentation of Infantile Epileptic Spasm Syndrome in a Child

Turkish Archives of Pediatrics
Cite this article as: Yıldırım M, Özkara KA, Çiçek S, Bektaş Ö, Teber S. An unusual presentation of infantile epileptic spasm syndrome in a child. Turk Arch Pediatr. 2024;59(6):603-604.
Miraç Yıldırım, Kamile Akyol Özkara, Sultan Çiçek, Ömer Bektaş, Serap Teber   +4 more
openaire   +2 more sources

Abnormal KCC2 expression and function in a mouse model of epilepsy and tuberous sclerosis complex

Epilepsia, EarlyView.
Abstract Objective Drug‐resistant epilepsy is a common, severe manifestation of the genetic disorder tuberous sclerosis complex (TSC). Although significant mechanistic and therapeutic advances have been made in TSC, treatments for seizures remain largely ineffective.
Dongjun Guo, Lirong Han, Nicholas R. Rensing, Laura A. Jansen, Michael Wong   +4 more
wiley   +1 more source

First‐choice hormonal therapies for children with infantile epileptic spasms syndrome in South Asia: A network meta‐analysis of randomized controlled trials

Epilepsia Open
Considering the peculiar challenges with infantile epileptic spasms syndrome (IESS) in South Asia and a wide variation in the usage of hormonal therapies, we compared the efficacy and safety of various hormonal therapies for children with IESS in South ...
Nagita Devi, Priyanka Madaan, Nidhun Kandoth, Parth Lal, Jitendra Kumar Sahu, Dipika Bansal   +5 more
doaj   +1 more source

New variants and genotype-phenotype correlation of PPP3CA-related developmental and epileptic encephalopathy

Frontiers in Neuroscience
ObjectiveTo explore the genotypic spectrum and refine the genotype-phenotype correlation of PPP3CA-related developmental and epileptic encephalopathy (DEE).Methodswhole-exome sequencing or whole-genome sequencing was performed to all patients.
Ting Wang, Shijia Ouyang, Xueyang Niu, Miaomiao Cheng, Ying Yang, Yonghua Yang, Quanzhen Tan, Wenwei Liu, Xiaoling Yang, Yuehua Zhang   +9 more
doaj   +1 more source

Phenotypic and transcriptomic characterization of biallelic RNU2‐2 developmental and epileptic encephalopathy

Epilepsia, EarlyView.
Abstract Objective A significant proportion of individuals with suspected genetic developmental and epileptic encephalopathies (DEEs) remain unsolved following whole genome sequencing (WGS). Here we describe biallelic RNU2‐2 variants causing a recently reported, severe, recessive DEE.
Olivia J. Henry, Nadja Pekkola Pacheco, Irene Duba, Magnus Burstedt, Daniel Carlberg, Angelica M. Delgado‐Vega, Anna Hammarsjö, Sofie Ivarsson, Tord Jonson, Kristina Karrman, Nicole Lesko, Åsa Lindfors, Daniel Nilsson, Mia Olsson Engman, Lucía Peña‐Pérez, Erik Stenund, Fulya Taylan, Malin Ueberschär, Samuel Wiafe, Sofia Ygberg, Anna Lindstrand, Anna Wedell, Ann Nordgren, Tommy Stödberg   +23 more
wiley   +1 more source

Combination Therapy With Vigabatrin and Prednisolone Versus Vigabatrin Alone for Infantile Spasms

Annals of Clinical and Translational Neurology
Objective The study evaluated the effectiveness of combination therapy with vigabatrin and prednisolone versus vigabatrin alone for treating infantile epileptic spasms syndrome (IESS).
Rachata Boonkrongsak, Kantapon Trongkamolchai, Sirorat Suwannachote, Somjit Sri‐Udomkajorn, Raviwan Wittawassamrankul, Ravindra Arya, Kullasate Sakpichaisakul   +6 more
doaj   +1 more source