Results 91 to 100 of about 34,220 (292)

Gene burden meta‐analysis of 748 879 individuals identifies LGI1‐ADAM23 protein complex association with epilepsy

Epilepsia, EarlyView.
Abstract Epilepsy affects more than 50 million individuals globally and has a substantial genetic component that remains to be completely understood. Traditional studies have focused on severe, early onset cases enrolled through clinical or research settings.
Jessica Castrillon Lal, Costin Leu, Christian M. Boßelmann, Alina Ivaniuk, Eduardo Pérez‐Palma, Dennis Lal   +5 more
wiley   +1 more source

Tuberous Sclerosis Complex in Autism

, 2013
Objective: To study the prevalence rate of tuberous sclerosis complex in autistic disorder. Methods: We studied one cohort of children followed up since 2005 until 2009, with autistic disorder, to determine the incidence of tuberous sclerosis complex. We
Shi, Xiao-Dong, Guo, Xin, Tu, Wen-Jun
core   +1 more source

Unusual adult-onset cardiac rhabdomyomas in tuberous sclerosis complex: a case report

Frontiers in Medicine
BackgroundTuberous sclerosis complex is a genetic neurocutaneous autosomal dominant syndrome, characterized by the development of multiple benign tumors (hamartomas) affecting various systems.
H. A. Nati-Castillo, Juan Manuel Quintero, Oswaldo Aguilar Molina, Marlon Arias-Intriago, Fernando P. Melgar Muñoz, Juan S. Izquierdo-Condoy   +5 more
doaj   +1 more source

Tuberous Sclerosis

, 1980
Tuberous Sclerosis. Has two astrocytic hamartomas. One is calcified. Right eye. Pair with R1_D4b. Anatomy: Optic disc; Retina. Pathology: Astrocytic hamartoma. Disease/Diagnosis: Tuberous sclerosis.
William F. Hoyt, MD
core  

Tuberous Sclerosis: A Case Report

, 2017
Tuberous sclerosis is a disorder affecting multiple organs leading to morbidity and mortality. It is important to make an early diagnosis of tuberous sclerosis so that lifelong monitoring, early recognition of complications and proactive treatment can ...
Rumana Habib, Tanbin Rahman, Nirmalendu Bikash Bhowmik, Md Rashedul Islam, Md Amirul Haque, AMB Safdar, Aminur Rahman   +6 more
core   +1 more source

Diagnosis and management guidelines for infantile epileptic spasms syndrome around the world: A scoping review and comparative study of international approaches

Epilepsia, EarlyView.
Abstract Objective Infantile epileptic spasms syndrome (IESS) is an epileptic encephalopathy requiring rapid diagnosis and treatment to optimize neurodevelopmental outcomes. Although multiple national and regional guidelines exist, recommendations vary.
Gozde Erdemir, Chethan K. Rao, Anne Francine Pino, Christina Briscoe, Debopam Samanta, Jo M. Wilmshurst, Sonal Bhatia, Jessica L. Carpenter, Christina Hoei‐Hansen, Puneet Jain, Tommy Stodberg, Robyn Whitney, Ryuki Matsuura, Karina Rosso Astorga, Keryma Acevedo Gallinato, Pratibha Singhi, Aristides Hadijinicolaou, Gia Melikishvili, Patricia Smeyers, Nicola Specchio, Stéphane Auvin, Pediatric Epilepsy Research Consortium Infantile Spasm Work Group and International Committee   +21 more
wiley   +1 more source

Challenges in the management of a case of tuberous sclerosis

Industrial Psychiatry Journal, 2012
Tuberous sclerosis complex is a multi-system disorder with autosomal dominant inheritance, which can affect the brain, heart, skin, kidneys, lungs, and retina.
Anubhav Rathi, Manjeet Singh Bhatia, Anurag Jhanjee   +2 more
doaj   +1 more source

Tuberous Sclerosis

, 1965
Tuberous Sclerosis. Astrocytic hamartoma of the optic disc. Anatomy: Optic disc. Pathology: Astrocytic hamartoma. Disease/Diagnosis: Tuberous sclerosis.
William F. Hoyt, MD
core  

Effectiveness and tolerability of fenfluramine in pediatric and adult patients with developmental and epileptic encephalopathies: A multicenter, retrospective, real‐world clinical‐practice study

Epilepsia, EarlyView.
Abstract Objective Developmental and epileptic encephalopathies (DEEs) are characterized by drug‐resistant seizures and developmental slowing/regression. We examined the efficacy and tolerability of fenfluramine (FFA) in pediatric and adult patients with Lennox–Gastaut syndrome (LGS), Dravet syndrome (DS), and other DEEs.
Vicente Villanueva, Elena González‐Alguacil, Patricia Smeyers, Sara Hernández, Victor Soto‐Insuga, Alejandro Fernández‐Cabrera, Laura Olivié, Teresa de Santos, Beatriz Parejo, Lucas Iacampo, Belén Ortuño, Javier Aparicio, Montserrat Fuentes, Juan Rodriguez‐Uranga, Paula Martínez‐Agredano, José Carlos Estévez, Angel Aledo‐Serrano, Rocio Martin‐Alvarez, David Conejo, Belen Baena, Blanca Mercedes‐Álvarez, Yolanda López, Alba Sierra‐Marcos, Rocio Trincado‐Lamuño, Mouna Ennazeh, Jesús González de la Aleja, Julia Renau, Maria Dolores Castro‐Vilanova, Fátima Romero‐Aguilera, José M. Serratosa   +29 more
wiley   +1 more source

Tuberous Sclerosis

, 1967
Tuberous Sclerosis. Astrocytic hamartoma of the optic disc. Anatomy: Optic disc. Pathology: Astrocytic hamartoma. Disease/Diagnosis: Tuberous sclerosis.
William F. Hoyt, MD
core