Results 111 to 120 of about 243,798 (221)
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enter adult neurology care without etiologic clarification because of incomplete transition from pediatric services, outdated investigations, and attenuation of childhood electro‐clinical features over time.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 +10 more
wiley +1 more source
Primary Hepatic Neuroendocrine Tumor in a Patient With Tuberous Sclerosis
Annals of Internal Medicine: Clinical CasesTuberous sclerosis is a rare multisystemic disease with common benign manifestations. However, recent research suggests a rare association with malignant tumors.
Lindsey Farmer, Julie Rowe
doaj +1 more source
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 +5 more
wiley +1 more source
TUBEROUS SCLEROSIS (CLINICAL CASE)
Tuberous sclerosis is a rare genetic disorder that causes a tendency for benign tumors to develop throughout the body. The incidence rate is one case per 30 thousand population.
Majidova, N.U. +2 more
core +1 more source
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 +5 more
wiley +1 more source
Unraveling the function of TSC1-TSC2 complex: implications for stem cell fate
Stem Cell Research & TherapyBackground Tuberous sclerosis complex is a genetic disorder caused by mutations in the TSC1 or TSC2 genes, affecting multiple systems. These genes produce proteins that regulate mTORC1 activity, essential for cell function and metabolism.
Shuang Wang +7 more
doaj +1 more source
Tuberous sclerosis with specific renal involvement
, 1993 A case of a 37-year old man affected by tuberous sclerosis with bilateral renal angiomyolipomas is described. This is a very important association since it is observed in 20 to 50% of cases of tuberous sclerosis.
Iraci, S +4 more
core +1 more source
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 +7 more
wiley +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 +5 more
wiley +1 more source
Epilepsia Open, EarlyView.Abstract Objective Transcutaneous auricular vagus nerve stimulation (taVNS) is a noninvasive neuromodulation strategy for drug‐resistant epilepsy, but clinical response is heterogeneous. We examined whether electroencephalographic (EEG) and structural magnetic resonance imaging (MRI) phenotypes were associated with active‐specific clinical benefit from
Sung Jun Hong +6 more
wiley +1 more source