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
1988 2
2001 1
2006 1
2007 1
2009 2
2013 2
2014 3
2015 1
2017 2
2019 3
2021 1
2022 3
2023 2
2024 1

Text availability

Article attribute

Article type

Publication date

Search Results

23 results

Results by year

Filters applied: . Clear all
Page 1
A multidisciplinary approach and consensus statement to establish standards of care for Angelman syndrome.
Duis J, Nespeca M, Summers J, Bird L, Bindels-de Heus KGCB, Valstar MJ, de Wit MY, Navis C, Ten Hooven-Radstaake M, van Iperen-Kolk BM, Ernst S, Dendrinos M, Katz T, Diaz-Medina G, Katyayan A, Nangia S, Thibert R, Glaze D, Keary C, Pelc K, Simon N, Sadhwani A, Heussler H, Wheeler A, Woeber C, DeRamus M, Thomas A, Kertcher E, DeValk L, Kalemeris K, Arps K, Baym C, Harris N, Gorham JP, Bohnsack BL, Chambers RC, Harris S, Chambers HG, Okoniewski K, Jalazo ER, Berent A, Bacino CA, Williams C, Anderson A. Duis J, et al. Mol Genet Genomic Med. 2022 Mar;10(3):e1843. doi: 10.1002/mgg3.1843. Epub 2022 Feb 11. Mol Genet Genomic Med. 2022. PMID: 35150089 Free PMC article. Review.
BACKGROUND: Angelman syndrome (AS) is a rare neurogenetic disorder present in approximately 1/12,000 individuals and characterized by developmental delay, cognitive impairment, motor dysfunction, seizures, gastrointestinal concerns, and abnormal electroenceph …
BACKGROUND: Angelman syndrome (AS) is a rare neurogenetic disorder present in approximately 1/12,000 individuals and characterized by …
Guidance on Dravet syndrome from infant to adult care: Road map for treatment planning in Europe.
Cardenal-Muñoz E, Auvin S, Villanueva V, Cross JH, Zuberi SM, Lagae L, Aibar JÁ. Cardenal-Muñoz E, et al. Epilepsia Open. 2022 Mar;7(1):11-26. doi: 10.1002/epi4.12569. Epub 2021 Dec 19. Epilepsia Open. 2022. PMID: 34882995 Free PMC article. Review.
Dravet syndrome (DS) is a severe, rare, and complex developmental and epileptic encephalopathy affecting 1 in 16 000 live births and characterized by a drug-resistant epilepsy, cognitive, psychomotor, and language impairment, and behavioral disorders. Evidence sugge …
Dravet syndrome (DS) is a severe, rare, and complex developmental and epileptic encephalopathy affecting 1 in 16 000 live births and charact …
Treatment of Lennox-Gastaut syndrome.
Hancock EC, Cross JH. Hancock EC, et al. Cochrane Database Syst Rev. 2013 Feb 28;2013(2):CD003277. doi: 10.1002/14651858.CD003277.pub3. Cochrane Database Syst Rev. 2013. PMID: 23450537 Free PMC article. Updated. Review.
BACKGROUND: The Lennox-Gastaut syndrome (LGS) is an age-specific disorder, characterised by epileptic seizures, a characteristic electroencephalogram (EEG), psychomotor delay and behavioural disorder. ...OBJECTIVES: To compare the effects of pharmaceut …
BACKGROUND: The Lennox-Gastaut syndrome (LGS) is an age-specific disorder, characterised by epileptic seizures, a characterist …
Caffeine versus other methylxanthines for the prevention and treatment of apnea in preterm infants.
Moresco L, Sjögren A, Marques KA, Soll R, Bruschettini M. Moresco L, et al. Cochrane Database Syst Rev. 2023 Oct 4;10(10):CD015462. doi: 10.1002/14651858.CD015462.pub2. Cochrane Database Syst Rev. 2023. PMID: 37791592 Review.
BACKGROUND: Methylxanthines, including caffeine, theophylline, and aminophylline, work as stimulants of the respiratory drive, and decrease apnea of prematurity, a developmental disorder common in preterm infants. In particular, caffeine has been reported to improve import …
BACKGROUND: Methylxanthines, including caffeine, theophylline, and aminophylline, work as stimulants of the respiratory drive, and decrease …
The clinical recognition and differential diagnosis of Rett syndrome.
Trevathan E, Naidu S. Trevathan E, et al. J Child Neurol. 1988;3 Suppl:S6-16. doi: 10.1177/0883073888003001s03. J Child Neurol. 1988. PMID: 3058788 Review.
Rett syndrome (RS) is characterized by progressive loss of intellectual functioning and fine and gross motor skills as well as development of stereotypic hand movement abnormalities, occurring after 6 to 18 months of normal development. ...Infantile autism is the mo …
Rett syndrome (RS) is characterized by progressive loss of intellectual functioning and fine and gross motor skills as well as developmen …
Treatment of Lennox-Gastaut syndrome.
Hancock EC, Cross HH. Hancock EC, et al. Cochrane Database Syst Rev. 2009 Jul 8;(3):CD003277. doi: 10.1002/14651858.CD003277.pub2. Cochrane Database Syst Rev. 2009. PMID: 19588340 Updated. Review.
BACKGROUND: The Lennox-Gastaut syndrome is an age-specific disorder, characterised by epileptic seizures, a characteristic electroencephalogram (EEG), psychomotor delay and behaviour disorders. ...OBJECTIVES: To compare the effects of pharmaceutical …
BACKGROUND: The Lennox-Gastaut syndrome is an age-specific disorder, characterised by epileptic seizures, a characteristic ele …
Genotype-phenotype correlation in contactin-associated protein-like 2 (CNTNAP-2) developmental disorder.
D'Onofrio G, Accogli A, Severino M, Caliskan H, Kokotović T, Blazekovic A, Jercic KG, Markovic S, Zigman T, Goran K, Barišić N, Duranovic V, Ban A, Borovecki F, Ramadža DP, Barić I, Fazeli W, Herkenrath P, Marini C, Vittorini R, Gowda V, Bouman A, Rocca C, Alkhawaja IA, Murtaza BN, Rehman MMU, Al Alam C, Nader G, Mancardi MM, Giacomini T, Srivastava S, Alvi JR, Tomoum H, Matricardi S, Iacomino M, Riva A, Scala M, Madia F, Pistorio A, Salpietro V, Minetti C, Rivière JB, Srour M, Efthymiou S, Maroofian R, Houlden H, Vernes SC, Zara F, Striano P, Nagy V. D'Onofrio G, et al. Hum Genet. 2023 Jul;142(7):909-925. doi: 10.1007/s00439-023-02552-2. Epub 2023 May 14. Hum Genet. 2023. PMID: 37183190 Free PMC article. Review.
Antiseizure medications were successful in controlling the seizures in about two-thirds of the patients. Autism spectrum disorder (ASD) and/or other neuropsychiatric comorbidities were present in nine patients (40.9%). ...We have defined the main features associated …
Antiseizure medications were successful in controlling the seizures in about two-thirds of the patients. Autism spectrum disorder …
Genotype and phenotype features and prognostic factors of neonatal-onset pyridoxine-dependent epilepsy: A systematic review.
Fang C, Yang L, Xiao F, Yan K, Zhou W. Fang C, et al. Epilepsy Res. 2024 May;202:107363. doi: 10.1016/j.eplepsyres.2024.107363. Epub 2024 Apr 17. Epilepsy Res. 2024. PMID: 38636407
All patients were treated with pyridoxine; forty patients received dietary intervention therapy. 63.9 % of the patients were completely seizure-free; however, 68.6 % of the patients had neurodevelopmental delays. ...Besides, pyridoxine used early in the neona …
All patients were treated with pyridoxine; forty patients received dietary intervention therapy. 63.9 % of the patients were complete …
Magnesium Supplement and the 15q11.2 BP1-BP2 Microdeletion (Burnside-Butler) Syndrome: A Potential Treatment?
Butler MG. Butler MG. Int J Mol Sci. 2019 Jun 14;20(12):2914. doi: 10.3390/ijms20122914. Int J Mol Sci. 2019. PMID: 31207912 Free PMC article. Review.
The 15q11.2 BP1-BP2 microdeletion (Burnside-Butler) syndrome is an emerging disorder that encompasses four genes (NIPA1, NIPA2, CYFIP1, and TUBGCP5). When disturbed, these four genes can lead to cognitive impairment, language and/or motor delay, psychiatric/b …
The 15q11.2 BP1-BP2 microdeletion (Burnside-Butler) syndrome is an emerging disorder that encompasses four genes (NIPA1, NIPA2, CYFIP …
Tuberous Sclerosis Complex Genotypes and Developmental Phenotype.
Farach LS, Pearson DA, Woodhouse JP, Schraw JM, Sahin M, Krueger DA, Wu JY, Bebin EM, Lupo PJ, Au KS, Northrup H; TACERN Study Group. Farach LS, et al. Pediatr Neurol. 2019 Jul;96:58-63. doi: 10.1016/j.pediatrneurol.2019.03.003. Epub 2019 Mar 13. Pediatr Neurol. 2019. PMID: 31005478 Free PMC article.
However, the effect of TSC2 pathogenic variants on early and specific domains of development hasn't been studied. Using an extensively phenotyped group, we aimed to characterize differences in early intellectual development between genotypes. ...Having a TSC2 pathog …
However, the effect of TSC2 pathogenic variants on early and specific domains of development hasn't been studied. Using an extensivel …
23 results