Results 201 to 210 of about 730,852 (352)

Faculty Opinions recommendation of Focal structural changes and cognitive dysfunction in juvenile myoclonic epilepsy.

, 2011
Christoph Baumgartner, Susanne Pirker
openalex   +2 more sources

Apnoea and bradycardia during epileptic seizures: relation to sudden death in epilepsy. [PDF]

, 1996
Lina Nashef, F Walker, Penny Allen, Josemir W. Sander, Simon Shorvon, D. R. Fish   +5 more
openalex   +1 more source

Long‐Read Genome Sequencing Establishes Biallelic Pathogenic Variants in DNM1 With Distinct Functional Effects as the Cause of Early Infantile Developmental and Epileptic Encephalopathy

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Heterozygous de novo and inherited biallelic pathogenic variants in DNM1 have been reported in association with autosomal dominant (AD) and autosomal recessive (AR) developmental and epileptic encephalopathy, respectively, due to aberrant dynamin function or expression, with each inheritance pattern associated with a different mechanism of ...
Andy Drackley, Merlene Peter, Heba H. Akbari, Jelena Ivanisevic, Alexander Ing, Kelly Regan‐Fendt, Patrick McMullen, Kai Lee Yap   +7 more
wiley   +1 more source

<i>Lachnospira eligens</i> attenuates epileptogenesis via gut-brain axis regulation of blood-brain barrier integrity and neuroinflammation. [PDF]

Theranostics
Li H, Niu R, He W, Lai H, Zou S, Zou Q, Gui Y, Zhang T, Feng G, Xing Y, Gou D, Yang X.   +11 more
europepmc   +1 more source

Bone buttress operation for recurrent anterior shoulder dislocation in epilepsy [PDF]

, 1995
J G P Hutchinson, Lars Neumann, W. Angus Wallace   +2 more
openalex   +1 more source

Epilepsy

Neurobiology of Disease, 2000
Graham V. Lees, Edward G. Jones, James McNamara   +2 more
openaire   +3 more sources

Low‐Level Mosaicism in Tuberous Sclerosis Complex (TSC): Diagnostic and Clinical Implications From Two Novel Cases and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Mosaicism is relatively common in Tuberous Sclerosis Complex (TSC) but can be difficult to detect using routine diagnostic tests, particularly when the variant allele frequency (VAF) is low. We describe two cases of mosaic TSC diagnosed using an ultra‐deep sequencing approach in multiple tissues and review the literature about this topic in ...
Irene Ambrosetti, Carlotta Pia Cristalli, Francesca Montanari, Luca Caramanna, Francesco Modestino, Irene Capelli, Valeria Aiello, Sarah Lerario, Cecilia Evangelisti, Iria Neri, Eugenio Brunocilla, Cesare Rossi, Marco Seri, Daniela Turchetti, Giovanni Innella   +14 more
wiley   +1 more source

The Top 100 Most Cited Articles on Epilepsy Surgery: A Bibliometric Analysis of the Literature. [PDF]

Cureus
Gould J, Patel S, Chaurasia B.
europepmc   +1 more source

Psychiatric Comorbidities and Treatment Modalities in Children With Osteogenesis Imperfecta: A Systematic Review of Mental Health

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT To evaluate the prevalence of psychiatric signs and symptoms and describe psychotherapeutic and psychopharmacological interventions among children with osteogenesis imperfecta (OI). PRISMA guidelines were followed, and the study was registered in PROSPERO (CRD42024588284). Studies (n = 1419) were identified across five databases.
Julia M. Morales, Camille F. Villar, Beatriz Varman, Gianna M. Colombo, Danqi Li, Sarah J. Sadek, Marie‐Eve Robinson, Chaya N. Murali, Kara Ayers, Jocelyn Gomez, Brendan Lee, V. Reid Sutton, Eric A. Storch, Andrew D. Wiese   +13 more
wiley   +1 more source

Interictal Psychosis-A New Reason to Conduct Epilepsy Gene Testing? [PDF]

Epilepsy Curr
Munger Clary HM.
europepmc   +1 more source