Epilepsy, Intellectual and Developmental Disabilities, and Contraception in U.S. Medicaid Claims Data. [PDF]
Kirkpatrick L +12 more
europepmc +1 more source
Herein, a patient‐mounted neuro optical coherence tomography system that integrates a 5 degrees‐of‐freedom skull‐mounted robot (Skullbot) with a 0.6 mm neuroendoscope for targeted, minimally invasive deep brain imaging, is developed. The system offers high‐resolution imaging with precise deployment, demonstrated through successful tumor imaging in a ...
Chao Xu +7 more
wiley +1 more source
Attitudes and misconceptions surrounding epilepsy and first aid of seizures in the Eastern Mediterranean Region: a systematic review and meta-analysis. [PDF]
Shaaban S +9 more
europepmc +1 more source
Optimizing Diagnostic Accuracy of Clinical Red Flags in RASopathies
ABSTRACT RASopathies are a group of genetic disorders caused by pathogenic variants in the RAS‐mitogen‐activated protein kinase (RAS–MAPK) signaling pathway, often presenting with congenital heart defects, craniofacial dysmorphisms, and developmental delays. To assess the diagnostic yield of genetic testing in patients with suspected RASopathies and to
Emanuele Bobbio +16 more
wiley +1 more source
The Effect of GLP-1 Receptor Agonists on Epilepsy: No Appetite for Seizures. [PDF]
Karakis I.
europepmc +1 more source
The 9th International RASopathies Symposium
ABSTRACT The RASopathies are a group of congenital disorders with overlapping clinical manifestations that are caused by pathogenic germline or early somatic variants that result in the hyperactivation of the RAS/mitogen‐activated protein kinase (MAPK) signaling pathway.
Pau Castel +41 more
wiley +1 more source
Leukocytes Transcriptome Analysis of Genes Associated with Epilepsy Duration and Age of Onset. [PDF]
Sarangdhar MA, Zelano J.
europepmc +1 more source
ABSTRACT The rare X‐linked female‐restricted Hardikar syndrome (HDKR, OMIM # 301068) is characterized by multiple congenital anomalies including orofacial clefts, gastrointestinal, genitourinary, and cardiac anomalies, but cognitive and neurobehavioral development is rarely impaired.
Tinne Warmoeskerken +4 more
wiley +1 more source
Associations of eating behaviors, dietary inflammation, and visceral adiposity with clinical and psychological features in epilepsy. [PDF]
Eliaçık S +2 more
europepmc +1 more source
35 Individuals With HUWE1‐Related Neurodevelopmental Disorder and Suggested Clinical Evaluations
ABSTRACT HUWE1 (HECT, UBA, and WWE Domain Containing E3 Ubiquitin Protein Ligase1, OMIM 300697), located at Xp11.22, encodes a ubiquitin ligase that is highly conserved across species. Genetic variants in HUWE1 described in multiple independent studies cause X‐linked intellectual disability, including in the patients identified by Juberg, Marsidi, and ...
Mindy H. Li +25 more
wiley +1 more source

