Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Drew Michael Thodeson"'
Publikováno v:
Journal of child neurology. 36(5)
Objective: Genetic variants of the neuronal nicotinic acetylcholine receptor (nAChR) cause autosomal dominant sleep-related hypermotor epilepsy. Approximately 30% of autosomal dominant sleep-related hypermotor epilepsy patients are medically intracta
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d568725c5379bd4f7d3e9527213b25b9
https://pubmed.ncbi.nlm.nih.gov/33284031
https://pubmed.ncbi.nlm.nih.gov/33284031
Publikováno v:
Cell and Tissue Research. 371:47-54
Epilepsy is a disorder of the central nervous system characterized by spontaneous recurrent seizures. Although current therapies exist to control the number and severity of clinical seizures, there are no pharmacological cures or disease-modifying tr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::18ba9c4779aee166bda4a121f0e4d799
https://doi.org/10.1007/s00441-017-2675-z
https://doi.org/10.1007/s00441-017-2675-z
Autor:
Jason Y. Park, Drew Michael Thodeson
Publikováno v:
Cold Spring Harbor Molecular Case Studies
Genomic testing has become routine in the diagnosis and management of pediatric patients with epilepsy. In a single test, hundreds to thousands of genes are examined for DNA changes that may not only explain the etiology of the patient's condition bu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2424398ba201bdc31a6852c554663717
https://pubmed.ncbi.nlm.nih.gov/31371349
https://pubmed.ncbi.nlm.nih.gov/31371349
Autor:
Drew Michael Thodeson, Jenny Hsieh
Publikováno v:
Epilepsy Currents. 17:311-313
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9455fcc198ee79055c5a8251ba9ed05a
https://doi.org/10.5698/1535-7597.17.5.311
https://doi.org/10.5698/1535-7597.17.5.311
Publikováno v:
Journal of Psychology and Psychiatry. 2
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::3c66093eb7ae6a90d5d2f91f1b73ca75
https://doi.org/10.15761/jpp.1000111
https://doi.org/10.15761/jpp.1000111
Autor:
Timothy Walls, Midori Mitui, Jason Y. Park, Drew Michael Thodeson, Shirelle Figueroa, Susan Arnold
Publikováno v:
American Journal of Clinical Pathology. 149:S176-S177
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a0e962135b199ea1bbb9d4305b119279
https://doi.org/10.1093/ajcp/aqx149.395
https://doi.org/10.1093/ajcp/aqx149.395
Publikováno v:
JAMA Pediatrics. 173:e182302
Importance Clinical genomic tests that examine the DNA sequence of large numbers of genes are commonly used in the diagnosis and management of epilepsy in pediatric patients. The permanence of genomic test result interpretations is not known. Objecti
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::59f736c9b5ea8de34893f627800c1d0e
https://doi.org/10.1001/jamapediatrics.2018.2302
https://doi.org/10.1001/jamapediatrics.2018.2302
Publikováno v:
Neurology. 86:1561-1562
Phenytoin-induced dyskinesias are uncommon and underrecognized.1 An 11-month-old girl with Sturge-Weber syndrome (figure 1) and left hemiparesis had prolonged pharmacoresistant seizures. After IV fosphenytoin (peak level = 17.9 μg/mL, free level not
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ffcad9cdf6d705233e877e9a08636f4b
https://doi.org/10.1212/wnl.0000000000002595
https://doi.org/10.1212/wnl.0000000000002595
Autor:
Yoshimi Sogawa, Drew Michael Thodeson
Publikováno v:
Pediatric neurology. 51(5)
Background The current treatment guidelines for treatment of infantile spasms is ambiguous regarding individuals with known etiology and is backed by limited evidence. Recently published survey data reveal diverse treatment variation for infantile sp
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3dbafb1b6086a3710f7bd362ca902264
https://pubmed.ncbi.nlm.nih.gov/25175384
https://pubmed.ncbi.nlm.nih.gov/25175384
Autor:
Rana R. Said, Drew Michael Thodeson, Michael M. Dowling, Divyanshu Dubey, Susan Arnold, Deepa Sirsi
Publikováno v:
Pediatric Neurology. 53:97-98
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b4b445e59a33ee7f74ff1f51d7e96f5f
https://doi.org/10.1016/j.pediatrneurol.2015.03.001
https://doi.org/10.1016/j.pediatrneurol.2015.03.001