Results 131 to 140 of about 132,025 (234)

Compound heterozygosity of a De novo 16q24.1 deletion and missense mutation in COX4I1 leads to developmental regression, intellectual disability, and seizures

Epilepsia Open, Volume 10, Issue 3, Page 942-947, June 2025.
Abstract The COX4I1 is responsible for encoding a crucial component of cytochrome c oxidase, integral to electron transport in the mitochondrial respiratory chain. Mutations in COX4I1 can result in a rare autosomal recessive disorder characterized by growth retardation, slow weight gain, microcephaly, and potentially, hematologic symptoms such as ...
Zhen Liu, Mei He, Xuan Luo, Hu Pan, Xiao Mao, Jinping Su   +5 more
wiley   +1 more source

The significance of focal pattern in hypsarrhythmia

Brain Disorders
Introduction: Infantile Epileptic Spasms Syndrome (IESS) presents a therapeutic challenge and is frequently associated with developmental delay. It is characterized by seizures and hypsarrhythmia on the EEG and has multiple etiologies that influence ...
Anna Wiedemann, Birgit Stark, Gudrun Gröppel   +2 more
doaj  

Immediate Therapeutic Response to Vigabatrin in Lissencephaly‐Related Epileptic Spasms due to TUBA1A R402H Variant

American Journal of Medical Genetics Part A, Volume 197, Issue 7, July 2025.
Toru Nagata, Takashi Shibata, Hiroki Tsuchiya, Mari Akiyama, Mitsuhiro Kato, Tomoyuki Akiyama, Toshiki Takenouchi   +6 more
wiley   +1 more source

Synergy in Child Neurology: Science, Collaboration, and Leadership – The 2024 Hower Award Lecture

Annals of the Child Neurology Society, Volume 3, Issue 2, Page 71-77, June 2025.
Renée A. Shellhaas
wiley   +1 more source

Prognostic application of lesion network mapping to epilepsy surgery outcomes in pediatric tuberous sclerosis complex

Epilepsia, Volume 66, Issue 6, Page 1854-1864, June 2025.
Abstract Objective Patients with tuberous sclerosis complex (TSC)‐related epilepsy often have drug‐refractory epilepsy and numerous potential epileptogenic tubers. Current clinical methods target tubers for resection, but prediction of resulting seizure relief is difficult.
Kara B. Miecznikowski, Hansel M. Greiner, James Leach, Leonid Rozhkov, Francesco T. Mangano, Darcy A. Krueger, Mark W. DiFrancesco   +6 more
wiley   +1 more source

BRAIN GROWTH, MENTAL AND COGNITIVE DEVELOPMENTCAN BE INFLUENCED BY SEVERE EPILEPTIC ACTIVITYDURING EARLY INFANCY

Zdravniški Vestnik, 2008
Infantile spasms belong to epileptic encephalopathies of early infancy and represent oneof the major causes for acquired mental retardation in early childhood.
Zvonka Rener Primec
doaj  

Updated classification of epileptic seizures: Position paper of the International League Against Epilepsy

Epilepsia, Volume 66, Issue 6, Page 1804-1823, June 2025.
Abstract The International League Against Epilepsy (ILAE) has updated the operational classification of epileptic seizures, building upon the framework established in 2017. This revision, informed by the implementation experience, involved a working group appointed by the ILAE Executive Committee.
Sándor Beniczky, Eugen Trinka, Elaine Wirrell, Fatema Abdulla, Raidah Al Baradie, Mario Alonso Vanegas, Stéphane Auvin, Mamta Bhushan Singh, Hal Blumenfeld, Alicia Bogacz Fressola, Roberto Caraballo, Mar Carreno, Fernando Cendes, Augustina Charway, Mark Cook, Dana Craiu, Birinus Ezeala‐Adikaibe, Birgit Frauscher, Jacqueline French, M. V. Gule, Norimichi Higurashi, Akio Ikeda, Floor E. Jansen, Barbara Jobst, Philippe Kahane, Nirmeen Kishk, Ching Soong Khoo, Kollencheri Puthenveettil Vinayan, Lieven Lagae, Kheng‐Seang Lim, Angelica Lizcano, Aileen McGonigal, Katerina Tanya Perez‐Gosiengfiao, Philippe Ryvlin, Nicola Specchio, Michael R. Sperling, Hermann Stefan, William Tatum, Manjari Tripathi, Elza Márcia Yacubian, Samuel Wiebe, Jo Wilmshurst, Dong Zhou, J. Helen Cross   +43 more
wiley   +1 more source

Infantile spasms

Cleveland Clinic Journal of Medicine, 1984
openaire   +2 more sources

Infantile spasms. [PDF]

Archives of Disease in Childhood, 1993
openaire   +2 more sources

Infantile spasm, an unreported epilepsy form of CHD3 gene: A case report. [PDF]

Medicine (Baltimore)
Zhang T, Hu W, Zhang H, Ren Y, Tian P, Zhang H, Wang M, Su S.   +7 more
europepmc   +1 more source