Results 151 to 160 of about 110,801 (250)

Orthopaedist Beware: Severe Nutritional Rickets and Autism Spectrum Disorder. [PDF]

J Pediatr Soc North Am
Said M, Falkenberg A, Alvandi L, Gjonbalaj E, Karkenny AJ, Sharkey MS.   +5 more
europepmc   +1 more source

Seminars in epileptology: Holistic management of epilepsy in adults with intellectual development disorders

Epileptic Disorders, EarlyView.
Abstract This seminar addresses the complexity of the management of epilepsy in adults with intellectual development disorders (IDD), advocating holistic and multidisciplinary care aligned with the learning objectives of the International League Against Epilepsy. Epilepsy is significantly more prevalent in people with IDD, presenting unique diagnostic,
Elena Fonseca, Antonella Riva, Samuel López‐Maza, Malin Zaddach, Marie‐Claire Porter, Ingo Borggraefe, Lance Watkins, Andreas Schulze‐Bonhage, Rohit Shankar, Pasquale Striano, Lina Nashef   +10 more
wiley   +1 more source

The emerging role of gene therapy in autism spectrum disorder. [PDF]

Discov Ment Health
Shokoohi M, Ghamin K, Ghaderi M, Bamarinejad F, Homayouni Baker A, Danafar N, Zafarshamspour S.   +6 more
europepmc   +1 more source

Clinical utility and genetic landscape of exome sequencing in a large pediatric epilepsy cohort: Insights from a Turkish tertiary care center

Epileptic Disorders, EarlyView.
Abstract Objective To evaluate the diagnostic utility and genetic spectrum of next‐generation sequencing (NGS) in a large, well‐phenotyped cohort of Turkish pediatric patients with epilepsy of unknown etiology. Methods Between January 2021 and December 2024, 250 children (115 female, 135 male) with unexplained epilepsy underwent either whole‐exome ...
Derya Karaer, Beste Kipçak Yüzbaşı, İpek Şahin, Olcay Güngör, Kadri Karaer   +4 more
wiley   +1 more source

Binaural Processing Deficits in Autism Spectrum Disorder. [PDF]

Audiol Res
Kara JA, Vaughn TB, Gandhi T, Lee CC.
europepmc   +1 more source

Refining the electroclinical phenotype of 15q11.2 microdeletion: EEG biomarker overlap with Angelman syndrome

Epileptic Disorders, EarlyView.
Abstract The 15q11.2 microdeletion is a chromosomal condition associated with a broad epileptic phenotype. It is differentiated from Angelman syndrome, which is typically a larger maternal deletion in an overlapping area. We describe a patient with a 15q11.2 microdeletion that has clinical and EEG biomarker features similar to those seen in Angelman ...
Hok Leong Chin, Joshua Chang, Douglas Nordli III   +2 more
wiley   +1 more source

Neuroanatomical patterns of dementia risk in autism spectrum disorder. [PDF]

Front Aging Neurosci
Shin YS, Wang J, Pulver SL, Orlando AM, Romero RA, Cuomo CR, Lauzan IV, Dentry T, Shirley DJ, Christensen D, Unruh KE, Stevens CJ, McKinney WS, Mosconi MW, Vaillancourt DE, Wang Z, Coombes SA.   +16 more
europepmc   +1 more source

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

Caries Prevalence in Patients With Autism Spectrum Disorder: A Review of the Literature. [PDF]

Spec Care Dentist
Chahmi-Tahiri C, Pecci-Lloret MP, García-Ríos P, Pérez-Guzmán N.   +3 more
europepmc   +1 more source

WONOEP XVII appraisal: The role of the extracellular matrix in epilepsy

Epilepsia, EarlyView.
Abstract The extracellular matrix (ECM) is composed of proteoglycans and glycoproteins that regulate the external environment surrounding neurons, glia, and the vascular system. The ECM is vital for maintaining the structure and function of the brain and also acts as a reservoir for various signaling molecules and neurotransmitters, modulating synaptic
Eleonora Lugara, Erwin A. van Vliet, Alessia Romagnolo, Kevin Staley, Kyle P. Lillis, Chris Dulla, David C. Henshall, Katja Kobow   +7 more
wiley   +1 more source