Results 191 to 200 of about 34,220 (292)

Real‐world effectiveness of highly purified cannabidiol in epilepsy associated with 15q11.2‐q13.1 duplication and deletion syndromes: A multicenter study

Epilepsia Open, Volume 11, Issue 3, Page 1046-1053, June 2026.
Abstract This multicenter retrospective study evaluated the effectiveness and safety of highly purified cannabidiol (CBD) in 22 patients with 15q11.2‐q13.1 duplication or deletion syndromes (15q‐DDS), including 12 with 15q duplication syndrome (dup15q) and 10 with Angelman syndrome (AS). Median (interquartile range [IQR]) age at CBD initiation was 14.5
Emanuele Cerulli Irelli, Adolfo Mazzeo, Marco Perulli, Georgia Ramantani, Domenica Battaglia, Irene Bagnasco, Erica Cognolato, Pasquale Striano, Susanna Negrin, Alberto Danieli, Paolo Bonanni, Francesca F. Operto, Carlo Di Bonaventura, Antonietta Coppola, Alessandro Orsini   +14 more
wiley   +1 more source

Treating tuberous sclerosis-associated cardiac rhabdomyomas with mTOR inhibitors in preterm. [PDF]

Eur Heart J Case Rep
Pasquinucci M, Arcidiacono CM, Siboldi A, Derchi ME.   +3 more
europepmc   +1 more source

Tuberous Sclerosis and Psychosis [PDF]

British Journal of Psychiatry, 1987
openaire   +2 more sources

Diagnostic reassessment in patients previously diagnosed with childhood‐onset epilepsy during the transition to adult care: A retrospective cohort study in a tertiary epilepsy center

Epilepsia Open, Volume 11, Issue 3, Page 871-882, June 2026.
Abstract Objective To investigate the frequency, predictors, and clinical implications of diagnostic reassessment in patients previously diagnosed with childhood‐onset epilepsy during the transition period to adult care at a tertiary epilepsy center. Methods We conducted a retrospective cohort study of 317 patients previously diagnosed with childhood ...
Tetsuhiro Fukuyama, Masaru Nasuno, Manami Yabe, Makoto Nishioka, Yumi Hoshino, Takenori Natsume, Kohei Kanaya, Kyoko Takano, Tomoki Kaneko, Yushi Inoue   +9 more
wiley   +1 more source

Multifocal micronodular pneumocyte hyperplasia in the absence of tuberous sclerosis complex: A case report. [PDF]

Radiol Case Rep
Chikasue T, Zaizen Y, Tokisawa S, Sumi A, Mitsuoka M, Akiba J, Shioyama Y, Nagata S, Tanoue S, Fujimoto K.   +9 more
europepmc   +1 more source

A. C. Boudewijn Peters (1941–2026)

Annals of the Child Neurology Society, Volume 4, Issue 2, Page 110-111, June 2026.
Jurriaan M. Peters, Oebo F. Brouwer
wiley   +1 more source

Chronic sleep deprivation promotes drug‐resistant epilepsy via the BMAL1‐mTOR‐P‐gp axis

Epilepsia Open, Volume 11, Issue 3, Page 1017-1027, June 2026.
Abstract Objective The interplay between chronic sleep deprivation and drug‐resistant epilepsy (DRE) has gained increasing attention. Brain and muscle Arnt‐like protein 1 (BMAL1), which is implicated in sleep disturbance, has an unclear role in DRE. We aimed to investigate the role of BMAL1 in sleep deprivation‐induced DRE. Methods A pentylenetetrazole
Xiaomeng Wang, Rui Li, Yuzhu Zhang, Yi Hu, Jingjiao Chen, Sijia Tian, Dong Zhou, Xiaosa Chi   +7 more
wiley   +1 more source

Evaluation of Cortical Gyrification in Tuberous Sclerosis Complex: A Monocentric Retrospective Case-Control Study.

reservedIntroduzione: Il Complesso Sclerosi Tuberosa (TSC) è caratterizzato, a livello corticale, dalla presenza dei tuberi che determinano una profonda alterazione citoarchitetturale della corteccia e possono causare epilessia farmaco-resistente ...
BRUNELLO, FRANCESCO
core  

Oral Cryptococcosis due to Naganishia diffluens in a Patient With Thalassemia: A Case Report and a Literature Review

Journal of Clinical Laboratory Analysis, Volume 40, Issue 11, June 2026.
Naganishia diffluens, a rare non‐neoformans cryptococcal species, was identified by PCR sequencing as the causative agent of oral cryptococcosis in a 31‐year‐old Iranian man with β‐thalassemia. This case represents the first documented instance of oral infection by N.
Zahra Yahyazadeh, Zeynab Haseli, Javad Javidnia, Mahdi Abastabar, Eisa Nazar, Hosein Jalali, Mohamad Taghi Hedayati, Hossein Karami, Mohsen Nosratabadi, Lotfollah Davoodi, Seyyed Reza Aghili, Maryam Moazeni, Iman Haghani, Hamid Badali   +13 more
wiley   +1 more source

Advantages of optical coherence tomography in assessing retinal astrocytic hamartomas in children with tuberous sclerosis complex. [PDF]

Front Med (Lausanne)
Dou G, Zhou Z, Sun J, Zhang Z, Wang C, Sun D, Zhu J, Zhu Y, Zhang H, Wang Q, Li M, Deng Y, Wang Y.   +12 more
europepmc   +1 more source