Results 61 to 70 of about 84,044 (310)
Bone mineral density, vitamin D and anticonvulsant therapy [PDF]
Arquivos de Neuro-Psiquiatria, 2000 The aim of this study was to assess bone mineral density and vitamin D metabolism in patients on chronic anticonvulsant therapy. METHODS: Sixty-nine men, outpatients on chronic anticonvulsant therapy, who had been treated for at least 5 years, were ...
SILVANA FILARDI +3 more
doaj +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT U2 small nuclear RNA auxiliary factor 2 (U2AF2) is an essential pre‐mRNA splicing factor involved in the early stages of pre‐mRNA splicing. To date, multiple individuals have been reported with predominantly heterozygous missense variants presenting intellectual disability, speech and motor delays, seizures, hypotonia, and thin or hypoplastic ...
Amanda Toledo +3 more
wiley +1 more source
Recognition Memory After Febrile Seizures
Pediatric Neurology Briefs, 2012 Researchers at the Institute of Child Health, London; Epilepsy Center, University of Edinburgh; and Dartmouth Medical School, New Hampshire, US studied memory abilities in 26 children (mean age 23 months, SD 12.6 months) after prolonged febrile seizures (
J Gordon Millichap
doaj +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Autosomal recessive HARS1‐related disorder (originally described as Usher syndrome type 3B) caused by a homozygous Y454S variant in the histidyl‐tRNA synthetase gene (HARS1) is characterized by progressive sensorineural hearing and vision loss and respiratory deterioration with risk for sudden death following febrile illnesses.
Victoria Mok Siu +23 more
wiley +1 more source
A Case of Multiple Mitochondrial Dysfunctions Syndrome 1 and Review of the Literature
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Multiple mitochondrial dysfunctions syndrome 1 (MMDS1, MIM #605711) due to NFU1 gene defects is an ultra‐rare autosomal recessive inborn error of metabolism associated with reduced function of NFU1 iron–sulfur cluster (ISC) scaffold protein.
Charles R. DiFalco +6 more
wiley +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Tuberous sclerosis complex (TSC) is a genetic condition with multisystem neurocutaneous signs, including hamartomas, epilepsy, and neuropsychological difficulties. Although sleep disorders are increasingly recognized in TSC, they remain poorly described in adults.
Kirstin A. Risgaard +6 more
wiley +1 more source
The Effects of Valproic Acid on Appetitive and Aversive Instrumental Learning in Adult Rats
Frontiers in Behavioral Neuroscience, 2014 Antiepileptic medications are the frontline treatment for seizure conditions. However, these medications are not without cognitive side effects. Previously, our laboratory reported learning deficits in phenytoin and carbamazepine-treated rats.
John Joseph Orczyk +4 more
doaj +1 more source
The Anatomical Record, EarlyView.Abstract Hyperostosis frontalis interna (HFI) is a frequently underrecognized condition characterized by overgrowth of the frontal endocranium, most commonly observed in post‐menopausal women. Although its etiology remains unclear, hormonal influences and a possible relationship with neurocognitive changes have been proposed.
Danielle Felsberg +5 more
wiley +1 more source
Journal of Enzyme Inhibition and Medicinal Chemistry, 2020 Histamine H3 receptors (H3R) antagonists/inverse agonists are becoming a promising therapeutic approach for epilepsy. In this article, novel nonimidazole H3R antagonists/inverse agonists have been designed and synthesised via hybriding the H3R ...
Mingxia Song +5 more
doaj +1 more source