Results 101 to 110 of about 5,402,382 (253)

The multiple hit model of infantile and epileptic spasms: The 2025 update

Epilepsia Open, EarlyView.
Abstract Objective Infantile and epileptic spasms syndrome (IESS) is a developmental and epileptic encephalopathy manifesting with epileptic spasms and poor neurodevelopmental outcomes. There is an urgent need for the development of more effective and tolerated therapies.
Aristea S. Galanopoulou, Wenzhu B. Mowrey, Wei Liu, Anna Maria Katsarou, Qianyun Li, Oleksii Shandra, Solomon L. Moshé   +6 more
wiley   +1 more source

Bilateral Renal Angiomyolipomas with Invasion of the Renal Vein: A Case Report

The Scientific World Journal, 2008
An angiomyolipoma (AML) is usually a benign, rare, and, more commonly, a unilateral renal tumour. Bilateral tumours are very rare, particularly in the absence of tuberous sclerosis complex.
C. Blick, N. Ravindranath, A. Muneer, A. Jones   +3 more
doaj   +1 more source

Utility of repeat stereotactic EEG in pediatric patients with tuberous sclerosis

Epilepsia Open, EarlyView.
Abstract Objective Tuberous sclerosis complex (TSC) is a rare genetic disorder associated with early‐onset drug‐resistant epilepsy (DRE) secondary to intracranial tubers. Many patients undergo stereo‐EEG (sEEG) for seizure onset localization, sometimes requiring multiple sEEGs and subsequent epilepsy surgeries. Our objective was to evaluate the effects
Julie Uchitel, Olubunmi Fariyike, Samantha Steeman, Sarah Rockwood, Lily H. Kim, John Choi, Astrid C. Hengartner, Aiden H. Fel, Prathyusha Teeyagura, Gerald Grant, Vivek Buch, Kelly B. Mahaney, Laura M. Prolo, Ann Hyslop Segeren, H. Westley Phillips   +14 more
wiley   +1 more source

Symptom profiles of autism spectrum disorder in tuberous sclerosis complex

, 2016
ObjectiveTo determine the extent to which deficits associated with autism spectrum disorder (ASD) in toddlers with tuberous sclerosis complex (TSC) overlap with those in toddlers with nonsyndromic ASD (nsASD) and to examine cognitive function and ...
Varcin, Kandice J, Gulsrud, Amanda C, Bhatt, Rujuta, Jeste, Shafali S, Nelson, Charles A, Hellemann, Gerhard S, Kasari, Connie, Wu, Joyce Y, Sahin, Mustafa   +8 more
core   +1 more source

Clinical characteristics of subependymal giant cell astrocytoma in tuberous sclerosis complex [PDF]

, 2019
SEGA; TOSCA; Tuberous sclerosis complexSEGA; TOSCA; Complejo de esclerosis tuberosaSEGA; TOSCA; Complex d'esclerosi tuberosaBackground: This study evaluated the characteristics of subependymal giant cell astrocytoma (SEGA) in patients with tuberous ...
Perkovic Benedik, Mirjana, Curatolo, Paolo, Jansen, Anna C., Cottin, Vincent, Macaya Ruíz, Alfons, Carter, Tom, Belousova, Elena   +6 more
core   +1 more source

Complete lesion resection and early surgical intervention are favorable factors for long‐term seizure freedom in drug‐resistant epileptic spasms

Epilepsia Open, EarlyView.
Abstract Objective Epileptic spasms (ES) in children carry a high risk of neurodevelopmental delay, yet predictors of long‐term surgical outcome remain incompletely defined. This study aimed to evaluate seizure outcomes following epilepsy surgery and to identify independent prognostic factors for postoperative recurrence.
Hua Li, Yao Wang, Qiang Guo, Junxi Chen, Kaihui Li, Danfang Li, Qinghua Tan, Jing Guo   +7 more
wiley   +1 more source

[Tuberous sclerosis complex: A review].

La Revue de medecine interne, 2021
Tuberous sclerosis complex (TSC) is an autosomal dominant disorder that affects different organs and caused by loss-of-function mutations in one of two genes: TSC1 or TSC2. TSC1 or TSC2 gene mutation lead to dysfunction of hamartin or tuberin, respectively. Hamartin and tuberin form a protein complex that helps regulate cellular proliferation.
Pfirmann, P, Combe, C, Rigothier, C
openaire   +2 more sources

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

Rhinophyma in tuberous sclerosis complex: case report with brief review of literature

, 2014
Tuberous sclerosis or tuberous sclerosis complex (TSC) is an autosomal dominant inherited disease characterized by the triad epilepsy, hamartomas (angiofibroma) and reduced intellectual capacity. Phenotype can vary considerably.
Friedrich, Reinhard E., Hagel, Christian, Friedrich, RE, Hagel, C   +3 more
core   +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