Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Purva Keni Karnavat"'
Autor:
P. Ellen Grant, Purva Keni Karnavat, Rutvi Vyas, Anaita Udwadia Hegde, Melissa L. DiBacco, Phillip L. Pearl
Publikováno v:
J Child Neurol
γ-Aminobutyric acid (GABA)-transaminase deficiency is an ultra-rare disorder of GABA metabolism that was described for decades as an early-onset epileptic encephalopathy plus movement disorder and hypersomnolence with mortality in early childhood. W
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::710b5a34ded964b143a72bc1bda2a289
https://doi.org/10.1177/0883073818823359
https://doi.org/10.1177/0883073818823359
Publikováno v:
International Journal of Epilepsy. :028-037
Background Pediatric epilepsy is associated with various comorbidities. It is known that children with epilepsy have a compromised health-related quality of life (QOL) and may be affected across physical, psychological, social, and educational domain
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::524f55f22d15eb975b419346495a5d59
https://doi.org/10.1055/s-0038-1660774
https://doi.org/10.1055/s-0038-1660774
Publikováno v:
Journal of the International Child Neurology Association.
The congenital myasthenic syndromes (CMS) are a heterogeneous group of disorders arising from genetic defects in presynaptic, synaptic, and postsynaptic proteins of the neuromuscular junction (NMJ) resulting in variable and characteristically fatigab
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::addbdd26224ad9495a74c5ddf659ac4f
https://doi.org/10.17724/jicna.2019.122
https://doi.org/10.17724/jicna.2019.122
Publikováno v:
Child Neurology Open, Vol 6 (2019)
Child Neurology Open
Child Neurology Open
CLIPPERS (chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids) is a recently described, rare neuroinflammatory disorder diagnosed by clinical symptoms involving the brain stem with a distinct pattern on neuro
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::029433b85bdcb875dc077b14e4161294
https://doaj.org/article/1b9d1afc83fc444eb2c0c14156879c6b
https://doaj.org/article/1b9d1afc83fc444eb2c0c14156879c6b
Pediatric onset multiple sclerosis (POMS) is an increasingly recognized disorder with a significant morbidity. It is a challenge to select a medication for pediatric patients to maintain remission, considering the young age of onset, disease course,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0062db9171398a64ae83f0f5e4120ca3
Publikováno v:
International Journal Of Community Medicine And Public Health. 5:1414
Background: Pediatric neurology outpatient populations are a vulnerable subgroup for vitamin D deficiency. The aim was to study the incidence of vitamin D deficiency in pediatric neurology patients by studying relevant biochemical profile and to asse
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::31045e78330962080ead1ae151c07cf9
https://doi.org/10.18203/2394-6040.ijcmph20181209
https://doi.org/10.18203/2394-6040.ijcmph20181209
Publikováno v:
Journal of Clinical Neonatology. 6:200
We describe a 3-month-old female child born to third degree consanguineous Indian parents with progressive epileptic encephalopathy (EE), microcephaly, and generalized hypertonia. Whole exome sequencing revealed homozygous variant in the BRCA1-associ
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c6e366b78b7fa5a13c199dce5c85d79b
https://doi.org/10.4103/jcn.jcn_32_17
https://doi.org/10.4103/jcn.jcn_32_17