Results 211 to 220 of about 2,601,816 (350)

Electroclinical phenotypes—genetic characterization of developmental and epileptic encephalopathies in a cohort study

Epileptic Disorders, EarlyView.
Abstract Objective Developmental and epileptic encephalopathies (DEEs) are characterized by refractory seizures and frequently recurring epileptic activity with neurodevelopmental delay or regression that usually begin in early life. We aimed to define the relationship between electroclinical features and etiology, as well as the genotype–phenotype ...
Burcu Yaman, Fulya Kurekci, Sinan Akbas, Ceyda Oney, Mehmet Akif Kilic, Hulya Maras Genc, Ayca Dilruba Aslanger, Edibe Pembegul Yildiz   +7 more
wiley   +1 more source

TREX tetramer disruption alters RNA processing necessary for corticogenesis in THOC6 Intellectual Disability Syndrome. [PDF]

Nat Commun
Werren EA, LaForce GR, Srivastava A, Perillo DR, Li S, Johnson K, Baris S, Berger B, Regan SL, Pfennig CD, de Munnik S, Pfundt R, Hebbar M, Jimenez-Heredia R, Karakoc-Aydiner E, Ozen A, Dmytrus J, Krolo A, Corning K, Prijoles EJ, Louie RJ, Lebel RR, Le TL, Amiel J, Gordon CT, Boztug K, Girisha KM, Shukla A, Bielas SL, Schaffer AE.   +29 more
europepmc   +1 more source

Optic atrophy-intellectual disability syndrome [PDF]

, 2020
openaire   +1 more source

KBG syndrome: A scoping review of electroclinical features of patients with epilepsy

Epileptic Disorders, EarlyView.
Abstract Background and Objectives KBG syndrome is a rare autosomal developmental disorder caused by pathogenic variants of the ANKRD11 gene. This scoping review aimed to explore all current literature data regarding clinical and electroencephalographic features of patients with KBG syndrome and epilepsy. Materials and Methods We conducted a literature
Stefania Kalampokini, Evripidis Pityrigkas, Zoi Kallia, Georgia Pepe, Antonis Frontistis, Dimitrios Profer, Vasilios Kimiskidis   +6 more
wiley   +1 more source

Health disparities in chronic liver disease

Hepatology, EarlyView., 2022
Abstract The syndemic of hazardous alcohol consumption, opioid use, and obesity has led to important changes in liver disease epidemiology that have exacerbated health disparities. Health disparities occur when plausibly avoidable health differences are experienced by socially disadvantaged populations.
Ani Kardashian, Marina Serper, Norah Terrault, Lauren D. Nephew   +3 more
wiley   +1 more source

PHF6-mediated transcriptional control of NSC via Ephrin receptors is impaired in the intellectual disability syndrome BFLS. [PDF]

EMBO Rep
Rasool D, Burban A, Sharanek A, Madrigal A, Hu J, Yan K, Qu D, Voss AK, Slack RS, Thomas T, Bonni A, Picketts DJ, Soleimani VD, Najafabadi HS, Jahani-Asl A.   +14 more
europepmc   +1 more source

Ataxia-deafness-intellectual disability syndrome [PDF]

, 2020
openaire   +1 more source

Epilepsy with eyelid myoclonia beyond the classical phenotype: Longitudinal electroclinical observations in a pediatric cohort

Epileptic Disorders, EarlyView.
Abstract Objective Epilepsy with eyelid myoclonia is a childhood‐onset generalized epilepsy syndrome with variable recognition of eyelid myoclonia, eye‐closure sensitivity, and photosensitivity during follow‐up. We aimed to characterize longitudinal clinical and electroencephalographic features in pediatric epilepsy with eyelid myoclonia, focusing on ...
Hande Aygün, Alper Taşkın, Özlem Yayıcı Köken, Şenay Haspolat   +3 more
wiley   +1 more source

Exploring the Redesign of Inclusive AAC Technologies for Individuals with Down Syndrome and Mild Intellectual Disabilities

Numera M.I. Shahid
openalex   +1 more source