Results 111 to 120 of about 5,402,382 (253)

Tuberous Sclerosis Complex Presenting as Periungual Fibromas: A Rare Case Report and Literature Review [PDF]

open access: yes
Ying Li,1,* Zhipeng Wang,1,* Yanhua Yang,2 Xiaoyan Xu3 1Department of Pathology, Sanya Central Hospital (The Third People’s Hospital of Hainan Province), Sanya, 572000, People’s Republic of China; 2Department of Pathology, Qingdao Municipal ...
Li Y, Yang Y, Xu X, Wang Z
core  

Cortical blindness as severe neuro-ophthalmological manifestation of tuberous sclerosis complex

open access: yes, 2017
Patients with retinal lesions related to tuberous sclerous complex (TSC) commonly have no impairment of visual acuity.
Cárdenas, Pedro Luis   +7 more
core   +1 more source

Tuberous sclerosis complex presenting as pulmonary lymphangioleiomyomatosis - a clinicoradiological diagnosis

open access: yesThe Pan African Medical Journal, 2015
Tuberous sclerosis complex (TSC) manifests predominantly as a neurocutaneous disorder. Lymphangioleiomyomatosis (LAM) is a rare pulmonary manifestation of TSC.
Kamini Gupta   +3 more
doaj   +1 more source

Phenotype‐guided etiologic workup in a prospective cohort of 144 adults with developmental and epileptic encephalopathy

open access: yesEpilepsia 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enter adult neurology care without etiologic clarification because of incomplete transition from pediatric services, outdated investigations, and attenuation of childhood electro‐clinical features over time.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

Tuberous Sclerosis Complex: a Case Study [PDF]

open access: yes, 2018
© 2018, Springer Science+Business Media, LLC, part of Springer Nature. The article is a contribution to the international database of tuberous sclerosis case studies.
Gamirova R.
core  

Mosaicism in Tuberous Sclerosis Complex

open access: yes, 1999
Six families with mosaicism in a series of 62 unrelated families with a mutation in one of the two tuberous sclerosis complex (TSC) genes, TSC1 or TSC2, are reported from the Erasmus University and Hospital, Rotterdam, The ...
J Gordon Millichap
core   +1 more source

Long‐term developmental outcome in infantile epileptic spasms syndrome after high‐dose prednisolone and vigabatrin treatment

open access: yesEpilepsia 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

Astrocyte subtype‐specific alterations in the dentate gyrus of individuals with mesial temporal lobe epilepsy

open access: yesEpilepsia 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

Parental Understanding of Tuberous Sclerosis Complex [PDF]

open access: yes, 2015
Tuberous sclerosis complex is a genetic disorder with multisystem involvement that poses significant challenges to the affected child and family. Caregiver knowledge in the South African population has not previously been reported. A prospective study of
Schlegel, Birgit   +3 more
core  

Effectiveness and safety of cannabidiol in adult patients with epilepsy: A multicenter, retrospective study

open access: yesEpilepsia 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

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