Zobrazeno 1 - 10
of 15
pro vyhledávání: '"Rajni Farmania"'
Publikováno v:
Annals of Indian Academy of Neurology, Vol 23, Iss 6, Pp 747-754 (2020)
Status epilepticus (SE) is a common neurological emergency in childhood associated with high mortality and morbidity. Acute management of seizures along with aggressive evaluation for establishing the underlying cause are crucial determinants of outc
Externí odkaz:
https://doaj.org/article/91859b2405d0489c8638fd32d32ae247
Publikováno v:
Current Medicine Research and Practice, Vol 11, Iss 1, Pp 47-49 (2021)
Joubert syndrome presenting during the neonatal period is very rare. We report a term neonate who presented with perinatal asphyxia followed by episodic tachypnoea interspersed with apnoea and seizures. On physical examination, baby was alert; howeve
Externí odkaz:
https://doaj.org/article/0b4cb4202b424c2c824547f0fe8700d8
Publikováno v:
Annals of Indian Academy of Neurology, Vol 24, Iss 4, Pp 612-614 (2021)
Externí odkaz:
https://doaj.org/article/4d109177460b4352b994d5ff561cff89
Publikováno v:
Epilepsy & Behavior Reports, Vol 16, Iss , Pp 100443- (2021)
Pyridox(am)ine- 5- phosphate Oxidase deficiency (PNPO) is a rare cause of neonatal metabolic encephalopathy associated with refractory status epilepticus. We report a case of a premature neonate presenting with drug-resistant seizures beginning at 2
Externí odkaz:
https://doaj.org/article/05a743e1404d4d85a9392fd7ce0be327
Publikováno v:
Journal of Pediatric Genetics.
Mutations in PACS1 cause moderate-to-severe intellectual disability. Very few cases of PACS1 neurodevelopment disorder have been described in the literature that were identified using whole exome sequencing (WES). We report a case of de novo PACS1 mu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a36de3282429396465130bbd3a5d7595
https://doi.org/10.1055/s-0042-1756310
https://doi.org/10.1055/s-0042-1756310
Publikováno v:
Seizure. 83:175-180
Purpose To describe and correlate the clinical, radiological and EEG findings in children with lissencephaly. Method Retrospective record analysis of children with lissencephaly presenting to tertiary health centre in Northern India was performed. Ra
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9b7dffd91a9a57821135ee1703eee3ae
https://doi.org/10.1016/j.seizure.2020.10.020
https://doi.org/10.1016/j.seizure.2020.10.020
Publikováno v:
Journal of Child Neurology. 34:410-414
Congenital disorders of glycosylation (CDG) are multisystemic inherited metabolic disorders with marked phenotypic variability. The most frequent described type is PMM2-CDG (earlier known as CDG Type Ia) which presents either with pure neurologic fea
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::87982d195534322ae4ca7b584619b297
https://doi.org/10.1177/0883073819833543
https://doi.org/10.1177/0883073819833543
Publikováno v:
Annals of Indian Academy of Neurology, Vol 24, Iss 4, Pp 612-614 (2021)
Annals of Indian Academy of Neurology
Annals of Indian Academy of Neurology
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b2d39ea036c068e11c739563e376aaaa
https://doi.org/10.4103/aian.aian_818_20
https://doi.org/10.4103/aian.aian_818_20
Publikováno v:
Epilepsy & Behavior Reports, Vol 16, Iss, Pp 100443-(2021)
Epilepsy & Behavior Reports
Epilepsy & Behavior Reports
Highlights • Treatment of PNPO deficiency related neonatal status epilepticus is challenging. • Pyridoxine responsiveness is seen in huge number of cases of PNPO deficiency. • Various phenotypic variants in terms of response to pyridoxine are k
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f675dfb4886f793f500e675d288a7318
http://www.sciencedirect.com/science/article/pii/S2589986421000174
http://www.sciencedirect.com/science/article/pii/S2589986421000174
Publikováno v:
Journal of Neurosciences in Rural Practice, Vol 08, Pp S044-S048 (2017)
Journal of Neurosciences in Rural Practice
Journal of Neurosciences in Rural Practice
Context: The normative data on muscle tone of preterm infants by goniometric assessment in Indian setting are scarce. Aim: The aim of this study it to provide a normative objective data of muscle tone of preterm infants by gestation using goniometer.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b7750a93e2484b180a60201391269be1
https://doi.org/10.4103/jnrp.jnrp_417_16
https://doi.org/10.4103/jnrp.jnrp_417_16