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
1996 1
2000 1
2001 4
2003 2
2006 1
2008 1
2011 2
2012 1
2016 1
2017 6
2018 2
2019 3
2020 4
2021 2
2022 1
2023 7
2024 0

Text availability

Article attribute

Article type

Publication date

Search Results

34 results

Results by year

Filters applied: . Clear all
Quoted phrase not found in phrase index: "Developmental and epileptic encephalopathy 110"
Page 1
Dental health in persons with disability.
Devinsky O, Boyce D, Robbins M, Pressler M. Devinsky O, et al. Epilepsy Behav. 2020 Sep;110:107174. doi: 10.1016/j.yebeh.2020.107174. Epub 2020 Jun 9. Epilepsy Behav. 2020. PMID: 32531727 Review.
For the literature review, PubMed, Google, and Google Scholar were searched. We also relied upon the knowledge gained during the course of routine clinical care and patient advocacy activities. Published manuscripts were searched for the following Medical Subject Heading ( …
For the literature review, PubMed, Google, and Google Scholar were searched. We also relied upon the knowledge gained during the course …
Disparities in adherence and emergency department utilization among people with epilepsy: A machine learning approach.
Bensken WP, Vaca GF, Williams SM, Khan OI, Jobst BC, Stange KC, Sajatovic M, Koroukian SM. Bensken WP, et al. Seizure. 2023 Aug;110:169-176. doi: 10.1016/j.seizure.2023.06.021. Epub 2023 Jun 28. Seizure. 2023. PMID: 37393863
RESULTS: From 52,175 people with epilepsy, the CART model identified developmental disabilities, age, race and ethnicity, and utilization as top predictors of adherence. ...CONCLUSIONS: ASM adherence differed by race and ethnicity, with different combinations …
RESULTS: From 52,175 people with epilepsy, the CART model identified developmental disabilities, age, race and ethnicity, and …
Psychiatric comorbidities, sexual health and neurodevelopmental outcomes of offspring in men with epilepsy.
Casale M, Lemus HN, Young JJ, Marcuse LV, Yoo JY, Faktorovich S, Mueller B, Fields MC. Casale M, et al. Epilepsy Behav. 2021 Jan;114(Pt A):107562. doi: 10.1016/j.yebeh.2020.107562. Epub 2020 Nov 24. Epilepsy Behav. 2021. PMID: 33243681 Free PMC article.
Time to conception, fertility methods and offspring birth and developmental history born to males with and without epilepsy was recorded. ...Males with epilepsy also had a higher frequency of low erection scores when compared to males without epilepsy …
Time to conception, fertility methods and offspring birth and developmental history born to males with and without epilepsy wa …
Epilepsies of presumed genetic etiology show enrichment of rare variants that occur in the general population.
Bundalian L, Su YY, Chen S, Velluva A, Kirstein AS, Garten A, Biskup S, Battke F, Lal D, Heyne HO, Platzer K, Lin CC, Lemke JR, Le Duc D; Epi25 Collaborative. Bundalian L, et al. Am J Hum Genet. 2023 Jul 6;110(7):1110-1122. doi: 10.1016/j.ajhg.2023.06.004. Epub 2023 Jun 26. Am J Hum Genet. 2023. PMID: 37369202 Free PMC article.
Previous studies suggested that severe epilepsies, e.g., developmental and epileptic encephalopathies (DEEs), are mainly caused by ultra-rare de novo genetic variants. ...Here, we separately analyzed three different groups of epilepsies: severe DEEs, genetic …
Previous studies suggested that severe epilepsies, e.g., developmental and epileptic encephalopathies (DEEs), are mainl …
Epilepsy prevalence and severity predictors in MRI-identified focal cortical dysplasia.
Maynard LM, Leach JL, Horn PS, Spaeth CG, Mangano FT, Holland KD, Miles L, Faist R, Greiner HM. Maynard LM, et al. Epilepsy Res. 2017 May;132:41-49. doi: 10.1016/j.eplepsyres.2017.03.001. Epub 2017 Mar 6. Epilepsy Res. 2017. PMID: 28288357
Age of seizure onset was later in those with drug-responsive epilepsy than those with drug-resistant epilepsy (p=0.0002). A later age of seizure onset (OR=1.22, p=0.0441, 95% C.I.=1.00-1.486) and absence of developmental delay (OR=3.624, p=0.0497, 95% C.I.=1. …
Age of seizure onset was later in those with drug-responsive epilepsy than those with drug-resistant epilepsy (p=0.0002). A la …
alpha-[11C]-methyl-L-tryptophan PET for tracer localization of epileptogenic brain regions: clinical studies.
Kumar A, Asano E, Chugani HT. Kumar A, et al. Biomark Med. 2011 Oct;5(5):577-84. doi: 10.2217/bmm.11.68. Biomark Med. 2011. PMID: 22003906 Free PMC article. Review.
Of several molecular probes used in PET, only alpha-[(11)C]-methyl-L-tryptophan (AMT) is able to pinpoint the epileptic focus itself in the interictal state, by revealing a focus of increased AMT uptake, even when an MRI or glucose metabolism PET demonstrates normal findin …
Of several molecular probes used in PET, only alpha-[(11)C]-methyl-L-tryptophan (AMT) is able to pinpoint the epileptic focus itself …
Three- and four-dimensional mapping of speech and language in patients with epilepsy.
Nakai Y, Jeong JW, Brown EC, Rothermel R, Kojima K, Kambara T, Shah A, Mittal S, Sood S, Asano E. Nakai Y, et al. Brain. 2017 May 1;140(5):1351-1370. doi: 10.1093/brain/awx051. Brain. 2017. PMID: 28334963 Free PMC article.
Patients estimated to have right-hemispheric language dominance were excluded. Thus, 100 patients who underwent two-stage epilepsy surgery with chronic electrocorticography recording were studied. ...Increased left-dominant activation in the anterior frontal structures in …
Patients estimated to have right-hemispheric language dominance were excluded. Thus, 100 patients who underwent two-stage epilepsy su …
An epilepsy-associated ACTL6B variant captures neuronal hyperexcitability in a human induced pluripotent stem cell model.
Ahn LY, Coatti GC, Liu J, Gumus E, Schaffer AE, Miranda HC. Ahn LY, et al. J Neurosci Res. 2021 Jan;99(1):110-123. doi: 10.1002/jnr.24747. Epub 2020 Nov 3. J Neurosci Res. 2021. PMID: 33141462 Free PMC article.
We recently reported biallelic pathogenic variants in ACTL6B in patients diagnosed with early infantile epileptic encephalopathy, subtype 76 (EIEE-76), presenting with severe, global developmental delay, epileptic encephalopathy, cerebral atroph …
We recently reported biallelic pathogenic variants in ACTL6B in patients diagnosed with early infantile epileptic encephalopathy …
Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy.
Paul MS, Duncan AR, Genetti CA, Pan H, Jackson A, Grant PE, Shi J, Pinelli M, Brunetti-Pierri N, Garza-Flores A, Shahani D, Saneto RP, Zampino G, Leoni C, Agolini E, Novelli A, Blümlein U, Haack TB, Heinritz W, Matzker E, Alhaddad B, Abou Jamra R, Bartolomaeus T, AlHamdan S, Carapito R, Isidor B, Bahram S, Ritter A, Izumi K, Shakked BP, Barel O, Ben Zeev B, Begtrup A, Carere DA, Mullegama SV, Palculict TB, Calame DG, Schwan K, Aycinena ARP, Traberg R; Genomics England Research Consortium; Douzgou S, Pirt H, Ismayilova N, Banka S, Chao HT, Agrawal PB. Paul MS, et al. Am J Hum Genet. 2023 Jan 5;110(1):120-145. doi: 10.1016/j.ajhg.2022.11.011. Epub 2022 Dec 16. Am J Hum Genet. 2023. PMID: 36528028 Free PMC article.
Here, we report on 15 individuals from 14 families presenting with global developmental delay, intellectual disability, hypotonia, epilepsy, and structural brain anomalies, all of whom have extremely rare de novo mono-allelic or inherited bi-allelic variants …
Here, we report on 15 individuals from 14 families presenting with global developmental delay, intellectual disability, hypotonia, …
Functional effects of disease-associated variants reveal that the S1-M1 linker of the NMDA receptor critically controls channel opening.
Xie L, McDaniel MJ, Perszyk RE, Kim S, Cappuccio G, Shapiro KA, Muñoz-Cabello B, Sanchez-Lara PA, Grand K, Zhang J, Nocilla KA, Sheikh R, Armengol L, Romano R, Pierson TM, Yuan H, Myers SJ, Traynelis SF. Xie L, et al. Cell Mol Life Sci. 2023 Mar 31;80(4):110. doi: 10.1007/s00018-023-04705-y. Cell Mol Life Sci. 2023. PMID: 37000222 Free PMC article.
Several de novo variants within this helix have been identified in patients presenting early in life with intellectual disability, developmental delay, and/or epilepsy. In this study, we evaluated functional properties for twenty variants within the pre-M1 linker in …
Several de novo variants within this helix have been identified in patients presenting early in life with intellectual disability, develo …
34 results