Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2014 2
2018 1
2020 1
2021 2
2022 2
2023 1
2024 0

Text availability

Article attribute

Article type

Publication date

Search Results

7 results

Results by year

Filters applied: . Clear all
Page 1
Seizure Severity and Treatment Response in Newborn Infants with Seizures Attributed to Intracranial Hemorrhage.
Herzberg EM, Machie M, Glass HC, Shellhaas RA, Wusthoff CJ, Chang T, Abend NS, Chu CJ, Cilio MR, Bonifacio SL, Massey SL, McCulloch CE, Soul JS; Neonatal Seizure Registry study group. Herzberg EM, et al. J Pediatr. 2022 Mar;242:121-128.e1. doi: 10.1016/j.jpeds.2021.11.012. Epub 2021 Nov 13. J Pediatr. 2022. PMID: 34780777
For infants born term, we sought to compare seizure severity and treatment response for multisite vs single-site ICH and hypoxic-ischemic encephalopathy (HIE) with vs without ICH. STUDY DESIGN: We studied 112 newborn infants with seizures attributed to ICH and 201 i …
For infants born term, we sought to compare seizure severity and treatment response for multisite vs single-site ICH and hypoxic-ischemic …
A 25 Mainland Chinese cohort of patients with PURA-related neurodevelopmental disorders: clinical delineation and genotype-phenotype correlations.
Dai W, Sun Y, Fan Y, Gao Y, Zhan Y, Wang L, Xiao B, Qiu W, Gu X, Sun K, Yu Y, Xu N. Dai W, et al. Eur J Hum Genet. 2023 Jan;31(1):112-121. doi: 10.1038/s41431-022-01217-4. Epub 2022 Nov 14. Eur J Hum Genet. 2023. PMID: 36376392 Free PMC article.
One patient with 5q31.3 microdeletion further supported the shortest overlapping region only contains PURA and IGIP gene. Developmental delay/intellectual disability, neonatal hypotonia, neonatal feeding difficulties, hypersomnolence and dysmorphic features were prominent …
One patient with 5q31.3 microdeletion further supported the shortest overlapping region only contains PURA and IGIP gene. Developmental …
Treatment of X-linked creatine transporter (SLC6A8) deficiency: systematic review of the literature and three new cases.
Dunbar M, Jaggumantri S, Sargent M, Stockler-Ipsiroglu S, van Karnebeek CD. Dunbar M, et al. Mol Genet Metab. 2014 Aug;112(4):259-74. doi: 10.1016/j.ymgme.2014.05.011. Epub 2014 May 29. Mol Genet Metab. 2014. PMID: 24953403 Review.
Definitions were established and extracted data analyzed for cognitive ability, psychiatric and behavioral disturbances, epilepsy, and cerebral proton magnetic resonance spectroscopy measurements at pre- and post-treatment. ...CONCLUSIONS: Acknowledging the limitations of …
Definitions were established and extracted data analyzed for cognitive ability, psychiatric and behavioral disturbances, epilepsy, an …
Treatment for epilepsy in pregnancy: neurodevelopmental outcomes in the child.
Bromley R, Weston J, Adab N, Greenhalgh J, Sanniti A, McKay AJ, Tudur Smith C, Marson AG. Bromley R, et al. Cochrane Database Syst Rev. 2014 Oct 30;2014(10):CD010236. doi: 10.1002/14651858.CD010236.pub2. Cochrane Database Syst Rev. 2014. PMID: 25354543 Free PMC article. Review.
SELECTION CRITERIA: Prospective cohort controlled studies, cohort studies set within pregnancy registers and randomised controlled trials were selected for inclusion. Participants were women with epilepsy taking AED treatment; the two control groups were women without e …
SELECTION CRITERIA: Prospective cohort controlled studies, cohort studies set within pregnancy registers and randomised controlled trials we …
Epilepsy in Nicolaides-Baraitser Syndrome: Review of Literature and Report of 25 Patients Focusing on Treatment Aspects.
Hofmeister B, von Stülpnagel C, Betzler C, Mari F, Renieri A, Baldassarri M, Haberlandt E, Jansen K, Schilling S, Weber P, Ahlbory K, Tang S, Berweck S, Kluger G. Hofmeister B, et al. Neuropediatrics. 2021 Apr;52(2):109-122. doi: 10.1055/s-0041-1722878. Epub 2021 Feb 12. Neuropediatrics. 2021. PMID: 33578439 Review.
Nicolaides-Baraitser syndrome (NCBRS), caused by a mutation in the SMARCA2 gene, which goes along with intellectual disability, congenital malformations, especially of face and limbs, and often difficult-to-treat epilepsy, is surveyed focusing on epilepsy and its tr …
Nicolaides-Baraitser syndrome (NCBRS), caused by a mutation in the SMARCA2 gene, which goes along with intellectual disability, congenital m …
A standardized patient-centered characterization of the phenotypic spectrum of PCDH19 girls clustering epilepsy.
Kolc KL, Sadleir LG, Depienne C, Marini C, Scheffer IE, Møller RS, Trivisano M, Specchio N, Pham D, Kumar R, Roberts R, Gecz J. Kolc KL, et al. Transl Psychiatry. 2020 May 4;10(1):127. doi: 10.1038/s41398-020-0803-0. Transl Psychiatry. 2020. PMID: 32366910 Free PMC article.
Of the 112 individuals represented (15 males), there were 70 unique variants. ...Seizures occurred in clusters in 94% of individuals, with seizures resolving in 28% at an average age of 17.5 years. Developmental delay prior to seizure onset occurred in 18% of our co …
Of the 112 individuals represented (15 males), there were 70 unique variants. ...Seizures occurred in clusters in 94% of individuals, …
Predictive Value of Thompson-Score for Long-Term Neurological and Cognitive Outcome in Term Newborns with Perinatal Asphyxia and Hypoxic-Ischemic Encephalopathy Undergoing Controlled Hypothermia Treatment.
Mendler MR, Mendler I, Hassan MA, Mayer B, Bode H, Hummler HD. Mendler MR, et al. Neonatology. 2018;114(4):341-347. doi: 10.1159/000490721. Epub 2018 Aug 21. Neonatology. 2018. PMID: 30130752
BACKGROUND: The so-called Thompson-score (TS) for newborns with hypoxic-ischemic encephalopathy (HIE) was developed before the introduction of controlled hypothermia as clinical routine. ...Secondary outcomes were motor outcomes, survival without relevant neurological impa …
BACKGROUND: The so-called Thompson-score (TS) for newborns with hypoxic-ischemic encephalopathy (HIE) was developed before the introd …