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
1974 1
1975 1
1985 1
1986 1
1988 2
1991 1
1992 1
1994 1
1995 1
1996 1
1997 1
2000 2
2001 1
2003 2
2004 4
2005 3
2006 1
2007 2
2008 4
2009 1
2010 2
2011 2
2013 5
2014 3
2015 5
2016 2
2017 8
2018 3
2019 4
2020 8
2021 8
2022 3
2023 3
2024 3

Text availability

Article attribute

Article type

Publication date

Search Results

83 results

Results by year

Filters applied: . Clear all
Quoted phrase not found in phrase index: "Neurodevelopmental disorder with language delay and seizures"
Page 1
Systematic analysis and prediction of genes associated with monogenic disorders on human chromosome X.
Leitão E, Schröder C, Parenti I, Dalle C, Rastetter A, Kühnel T, Kuechler A, Kaya S, Gérard B, Schaefer E, Nava C, Drouot N, Engel C, Piard J, Duban-Bedu B, Villard L, Stegmann APA, Vanhoutte EK, Verdonschot JAJ, Kaiser FJ, Tran Mau-Them F, Scala M, Striano P, Frints SGM, Argilli E, Sherr EH, Elder F, Buratti J, Keren B, Mignot C, Héron D, Mandel JL, Gecz J, Kalscheuer VM, Horsthemke B, Piton A, Depienne C. Leitão E, et al. Nat Commun. 2022 Nov 2;13(1):6570. doi: 10.1038/s41467-022-34264-y. Nat Commun. 2022. PMID: 36323681 Free PMC article.
We undertook a systematic analysis of human chrX genes. We observe a higher proportion of disorder-associated genes and an enrichment of genes involved in cognition, language, and seizures on chrX compared to autosomes. ...We provide evidence of an excess of …
We undertook a systematic analysis of human chrX genes. We observe a higher proportion of disorder-associated genes and an enrichment …
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. ...There is also a tendency for psychosis to develo …
BACKGROUND: The Lennox-Gastaut syndrome (LGS) is an age-specific disorder, characterised by epileptic seizures, a characterist …
Predictors of language regression and its association with subsequent communication development in children with autism.
Pickles A, Wright N, Bedford R, Steiman M, Duku E, Bennett T, Georgiades S, Kerns CM, Mirenda P, Smith IM, Ungar WJ, Vaillancourt T, Waddell C, Zaidman-Zait A, Zwaigenbaum L, Szatmari P, Elsabbagh M; Pathways in ASD Study Team. Pickles A, et al. J Child Psychol Psychiatry. 2022 Nov;63(11):1243-1251. doi: 10.1111/jcpp.13565. Epub 2022 Jan 30. J Child Psychol Psychiatry. 2022. PMID: 35098539 Free PMC article.
BACKGROUND: Language regression, broadly defined as the loss of acquired language skills in early childhood, is a distinctive feature of autism. Little is known about the factors underlying regression or the prognosis of children who exhibit regression. We ex …
BACKGROUND: Language regression, broadly defined as the loss of acquired language skills in early childhood, is a distinctive …
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. ...There is also a tendency for psychosis to develop with …
BACKGROUND: The Lennox-Gastaut syndrome is an age-specific disorder, characterised by epileptic seizures, a characteristic ele …
Neurodevelopmental phenotypes in individuals with pathogenic variants in CHAMP1.
Garrity M, Kavus H, Rojas-Vasquez M, Valenzuela I, Larson A, Reed S, Bellus G, Mignot C, Munnich A, Isidor B, Chung WK. Garrity M, et al. Cold Spring Harb Mol Case Stud. 2021 Aug 2;7(4):a006092. doi: 10.1101/mcs.a006092. Print 2021 Aug. Cold Spring Harb Mol Case Stud. 2021. PMID: 34021018 Free PMC article.
De novo pathogenic variants in CHAMP1 (chromosome alignment maintaining phosphoprotein 1), which encodes kinetochore-microtubule associated protein on 13q34, cause a rare neurodevelopmental disorder. We enrolled 14 individuals with pathogenic variants in CHAMP1 that …
De novo pathogenic variants in CHAMP1 (chromosome alignment maintaining phosphoprotein 1), which encodes kinetochore-microtubule associated …
De novo TRPM3 missense variant associated with neurodevelopmental delay and manifestations of cerebral palsy.
Sundaramurthi JC, Bagley AM, Blau H, Carmody L, Crandall A, Danis D, Gargano MA, Gustafson AG, Raney EM, Shingle M, Davids JR, Robinson PN. Sundaramurthi JC, et al. Cold Spring Harb Mol Case Stud. 2024 Jan 10;9(4):a006293. doi: 10.1101/mcs.a006293. Print 2023 Dec. Cold Spring Harb Mol Case Stud. 2024. PMID: 37684057 Free PMC article.
We identified a de novo heterozygous transient receptor potential cation channel subfamily M (melastatin) member 3 (TRPM3) missense variant, p.(Asn1126Asp), in a patient with developmental delay and manifestations of cerebral palsy (CP) using phenotype-driven prioritizatio …
We identified a de novo heterozygous transient receptor potential cation channel subfamily M (melastatin) member 3 (TRPM3) missense variant, …
Public Health Literature Review of Fragile X Syndrome.
Raspa M, Wheeler AC, Riley C. Raspa M, et al. Pediatrics. 2017 Jun;139(Suppl 3):S153-S171. doi: 10.1542/peds.2016-1159C. Pediatrics. 2017. PMID: 28814537 Free PMC article. Review.
RESULTS: The information is presented in the following categories: developmental profile (cognition, language, functional skills, and transition to adulthood), social-emotional profile (cooccurring psychiatric conditions and behavior problems), medical profile (physical fe …
RESULTS: The information is presented in the following categories: developmental profile (cognition, language, functional skills, and …
Angelman syndrome: clinical profile.
Zori RT, Hendrickson J, Woolven S, Whidden EM, Gray B, Williams CA. Zori RT, et al. J Child Neurol. 1992 Jul;7(3):270-80. doi: 10.1177/088307389200700307. J Child Neurol. 1992. PMID: 1634750 Review.
The questionnaire data describes a generally normal prenatal and birth history. Feeding difficulties, developmental delay, or seizures were the presenting problems in all infants. The diagnosis of Angelman syndrome, however, was not made in any infant prior to 1 yea …
The questionnaire data describes a generally normal prenatal and birth history. Feeding difficulties, developmental delay, or seiz …
Language predictors of autism spectrum disorder in young children with tuberous sclerosis complex.
Schoenberger A, Capal JK, Ondracek A, Horn PS, Murray D, Byars AW, Pearson DA, Williams ME, Bebin M, Northrup H, Wu JY, Sahin M, Krueger DA. Schoenberger A, et al. Epilepsy Behav. 2020 Feb;103(Pt A):106844. doi: 10.1016/j.yebeh.2019.106844. Epub 2019 Dec 18. Epilepsy Behav. 2020. PMID: 31864941 Free PMC article.
OBJECTIVES: The objectives the study were to identify the role of early language in subsequent development of ASD, evaluate the impact of epilepsy as a covariate on language development, and evaluate the relationship between epilepsy, language …
OBJECTIVES: The objectives the study were to identify the role of early language in subsequent development of ASD, evaluate th …
Idiopathic focal epilepsies: the "lost tribe".
Pal DK, Ferrie C, Addis L, Akiyama T, Capovilla G, Caraballo R, de Saint-Martin A, Fejerman N, Guerrini R, Hamandi K, Helbig I, Ioannides AA, Kobayashi K, Lal D, Lesca G, Muhle H, Neubauer BA, Pisano T, Rudolf G, Seegmuller C, Shibata T, Smith A, Striano P, Strug LJ, Szepetowski P, Valeta T, Yoshinaga H, Koutroumanidis M. Pal DK, et al. Epileptic Disord. 2016 Sep 1;18(3):252-88. doi: 10.1684/epd.2016.0839. Epileptic Disord. 2016. PMID: 27435520 Review. English.
What are the shared mechanisms of comorbidity between epilepsy and neurodevelopmental disorders? How do focal EEG discharges impact cognitive functioning? ...The genetic (and epigenetic) models for different IFEs, their comorbidities, and their similarities to other …
What are the shared mechanisms of comorbidity between epilepsy and neurodevelopmental disorders? How do focal EEG discharges i …
83 results