Results 111 to 120 of about 43,008 (246)

Dynamic Akt/mTOR Signaling in Children with Autism Spectrum Disorder. [PDF]

, 2017
Autism spectrum disorder (ASD) is a behaviorally defined disorder affecting 1 in 68 children. Currently, there is no known cause for the majority of ASD cases nor are there physiological diagnostic tools or biomarkers to aid behavioral diagnosis.
Ashwood, Paul, Onore, Charity, Van de Water, Judy, Yang, Houa   +3 more
core   +1 more source

Frontiers in EEG as a tool for the management of pediatric epilepsy: Past, present, and future

Epilepsia Open, EarlyView.
Abstract Electroencephalography (EEG) has evolved into an indispensable tool in pediatric epilepsy, fundamentally transforming the diagnosis, classification, and management of this condition. This review chronicles the historical journey of EEG from its groundbreaking inception to its current pivotal role in delineating distinct pediatric epilepsy ...
Hiroki Nariai
wiley   +1 more source

Prenatal betamethasone–postnatal N‐methyl‐D‐aspartic acid model of spasms: Update on mechanisms and treatments

Epilepsia Open, EarlyView.
Abstract Infantile epilepsy spasms syndrome (IESS), formerly known as infantile spasms or West Syndrome, is a severe epilepsy syndrome affecting about 3 in 10,000 newborns in the United States. Characterized by clusters of epileptic spasms, interictal hypsarrhythmia, and developmental delays, IESS has diverse causes, including structural‐metabolic ...
Kayla Vieira, Antonia Schonwald, Chian‐Ru Chern, Kamya Shah, Jana Velíšková, Libor Velíšek   +5 more
wiley   +1 more source

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

Does having bad epilepsy make you a good surgical candidate? A number needed to treat analysis

Epilepsia Open, EarlyView.
Abstract Epilepsy surgery is an established treatment for drug‐resistant epilepsy, offering a realistic prospect of seizure freedom in well‐selected candidates. However, surgery is sometimes offered to individuals with a low probability of seizure freedom when it is framed as potentially “life‐saving” on the basis of the elevated mortality associated ...
Sallie Baxendale, Dominic Heaney, Matthew C. Walker   +2 more
wiley   +1 more source

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

Epilepsia Open, EarlyView.
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

Tuberous sclerosis complex presenting as pulmonary lymphangioleiomyomatosis - a clinicoradiological diagnosis

The 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, Amit Goyal, Kavita Saggar, Avik Banerjee   +3 more
doaj   +1 more source

Outcomes of Genetic Testing in a Genitourinary Genetics Clinic [PDF]

, 2018
Several known hereditary cancer syndromes confer an increased risk for genitourinary (GU)related malignancies. Various guidelines indicate when to refer patients to genetic counseling for GU-related hereditary cancer syndromes but there is limited ...
Pace, Annelise
core   +1 more source

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, EarlyView.
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

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

Epilepsia Open, EarlyView.
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