Results 71 to 80 of about 47,981 (309)
Possible Anticonvulsant lmidazolinones. Synthesis and Anticonvulsant Activity of 1N-(y' -Picolinoyl)-4-substituted- benzylidene-2-methyl/phenyl-5-imidazolinone [PDF]
, 1991 Department of Chemistry, Saurashtra University, Rajkot-360 005 . Manuscript received 4 September 1990, accepted 23 April 1991 Possible Anticonvulsant lmidazolinones.
HANSA PAREKH +2 more
core +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
Future Natural ProductsBackground and aims: The Valerianaceae comprises about 300 species of annual and perennial plants found worldwide. Several species are utilized for biological purposes, while others are consumed.
Mohammad Amin Manavi
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
Anticonvulsant actions of deoxycorticosterone in infant rats [PDF]
, 2003 The anticonvulsant actions of deoxycorticosterone (DOC) are well known, however, DOC's mechanism of action is not clear. The present study investigated DOC's anticonvulsant actions in fifteen-day-old rats.
Perez-Cruz, Claudia
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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
ANTICONVULSANT PROPERTIES OF SOME MEDICINAL PLANTS- A REVIEW [PDF]
, 2017 Introduction: Epilepsy is the tendency to have seizures that start in the brain. The brain uses electrical signals to pass messages between brain cells and when these signals are disrupted, it leads to a seizure. A number of synthetic antiepileptic drugs
Srinivasan, Nivedha, Roy, Anitha
core +4 more sources
Structure-Dependent Activity of Natural GABA(A) Receptor Modulators
Molecules, 2018 GABA(A) receptors are ligand-gated ion channels consisting of five subunits from eight subfamilies, each assembled in four hydrophobic transmembrane domains.
Serhat Sezai Çiçek
doaj +1 more source
Anticonvulsant hypersensitivity syndrome treated with intravenous immunoglobulin [PDF]
, 2010 Anticonvulsant hypersensitivity syndrome is a severe, potentially life-threatening, reaction to the aromatic anticonvulsant medications. Reported here is a case of anticonvulsant hypersensitivity syndrome secondary to phenobarbital in a 2-year-old boy ...
Dredge, David, MD
core
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