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
1976 1
1980 3
1981 1
1982 1
1983 1
1986 1
1987 1
1988 3
1989 3
1990 3
1992 3
1993 3
1994 1
1995 3
1996 2
1997 2
1998 6
1999 8
2000 9
2001 15
2002 11
2003 9
2004 18
2005 15
2006 6
2007 29
2008 25
2009 28
2010 21
2011 27
2012 26
2013 33
2014 31
2015 34
2016 48
2017 57
2018 77
2019 82
2020 101
2021 109
2022 110
2023 127
2024 66

Text availability

Article attribute

Article type

Publication date

Search Results

967 results

Results by year

Filters applied: . Clear all
Quoted phrase not found in phrase index: "Developmental and epileptic encephalopathy, 1"
Page 1
SCN8A Epilepsy, Developmental Encephalopathy, and Related Disorders.
Talwar D, Hammer MF. Talwar D, et al. Pediatr Neurol. 2021 Sep;122:76-83. doi: 10.1016/j.pediatrneurol.2021.06.011. Epub 2021 Aug 3. Pediatr Neurol. 2021. PMID: 34353676 Review.
In this review we describe the identification of a new epileptic encephalopathy caused by a de novo mutation in the SCN8A gene, which encodes for Na(V)1.6, a vital sodium channel in the central nervous system. ...Following the original discovery in 2012 of a …
In this review we describe the identification of a new epileptic encephalopathy caused by a de novo mutation in the SCN8A gene …
The phenotypic spectrum of SCN2A-related epilepsy.
Reynolds C, King MD, Gorman KM. Reynolds C, et al. Eur J Paediatr Neurol. 2020 Jan;24:117-122. doi: 10.1016/j.ejpn.2019.12.016. Epub 2019 Dec 12. Eur J Paediatr Neurol. 2020. PMID: 31924505 Review.
Pathogenic variants in SCN2A are reported in a spectrum of neurodevelopmental disorders including developmental and epileptic encephalopathies, benign familial neonatal-infantile seizures, episodic ataxia, and autism spectrum disorder and intellectual disabil …
Pathogenic variants in SCN2A are reported in a spectrum of neurodevelopmental disorders including developmental and epileptic …
ATP1A2- and ATP1A3-associated early profound epileptic encephalopathy and polymicrogyria.
Vetro A, Nielsen HN, Holm R, Hevner RF, Parrini E, Powis Z, Møller RS, Bellan C, Simonati A, Lesca G, Helbig KL, Palmer EE, Mei D, Ballardini E, Van Haeringen A, Syrbe S, Leuzzi V, Cioni G, Curry CJ, Costain G, Santucci M, Chong K, Mancini GMS, Clayton-Smith J, Bigoni S, Scheffer IE, Dobyns WB, Vilsen B, Guerrini R; ATP1A2/A3-collaborators. Vetro A, et al. Brain. 2021 Jun 22;144(5):1435-1450. doi: 10.1093/brain/awab052. Brain. 2021. PMID: 33880529
A distinctive, 'profound' phenotype, featuring polymicrogyria or progressive brain atrophy and epilepsy, resulted in early lethality in seven patients (32%). ...These findings assign novel, 'profound' and early lethal phenotypes of developmental and epilep …
A distinctive, 'profound' phenotype, featuring polymicrogyria or progressive brain atrophy and epilepsy, resulted in early let …
Early childhood epilepsies: epidemiology, classification, aetiology, and socio-economic determinants.
Symonds JD, Elliott KS, Shetty J, Armstrong M, Brunklaus A, Cutcutache I, Diver LA, Dorris L, Gardiner S, Jollands A, Joss S, Kirkpatrick M, McLellan A, MacLeod S, O'Regan M, Page M, Pilley E, Pilz DT, Stephen E, Stewart K, Ashrafian H, Knight JC, Zuberi SM. Symonds JD, et al. Brain. 2021 Oct 22;144(9):2879-2891. doi: 10.1093/brain/awab162. Brain. 2021. PMID: 34687210 Free PMC article.
There was a socio-economic gradient to incidence, with a significantly higher incidence in the most deprived quintile (301 per 100 000 live births, 95% CI 251-357) compared with the least deprived quintile (182 per 100 000 live births, 95% CI 139-233), chi2 odds ratio = 1. …
There was a socio-economic gradient to incidence, with a significantly higher incidence in the most deprived quintile (301 per 100 000 live …
KCNT1-related epilepsies and epileptic encephalopathies: phenotypic and mutational spectrum.
Bonardi CM, Heyne HO, Fiannacca M, Fitzgerald MP, Gardella E, Gunning B, Olofsson K, Lesca G, Verbeek N, Stamberger H, Striano P, Zara F, Mancardi MM, Nava C, Syrbe S, Buono S, Baulac S, Coppola A, Weckhuysen S, Schoonjans AS, Ceulemans B, Sarret C, Baumgartner T, Muhle H, Portes VD, Toulouse J, Nougues MC, Rossi M, Demarquay G, Ville D, Hirsch E, Maurey H, Willems M, de Bellescize J, Altuzarra CD, Villeneuve N, Bartolomei F, Picard F, Hornemann F, Koolen DA, Kroes HY, Reale C, Fenger CD, Tan WH, Dibbens L, Bearden DR, Møller RS, Rubboli G. Bonardi CM, et al. Brain. 2021 Dec 31;144(12):3635-3650. doi: 10.1093/brain/awab219. Brain. 2021. PMID: 34114611
These range from familial autosomal dominant or sporadic sleep-related hypermotor epilepsy to epilepsy of infancy with migrating focal seizures (EIMFS) and include developmental and epileptic encephalopathies. ...Four phenotypic groups emerged f …
These range from familial autosomal dominant or sporadic sleep-related hypermotor epilepsy to epilepsy of infancy with migrati …
Fenfluramine: A Review in Dravet and Lennox-Gastaut Syndromes.
Frampton JE. Frampton JE. Drugs. 2023 Jul;83(10):923-934. doi: 10.1007/s40265-023-01881-w. Epub 2023 Jun 15. Drugs. 2023. PMID: 37316680 Free PMC article. Review.
Fenfluramine (Fintepla()) is an oral anti-seizure medication (ASM) with a novel mechanism of action consisting of activity in the serotonergic system coupled with positive allosteric modulation effects at sigma-1 receptors. Originally approved for use at high doses as an a …
Fenfluramine (Fintepla()) is an oral anti-seizure medication (ASM) with a novel mechanism of action consisting of activity in the serotonerg …
GRIN2A-related disorders: genotype and functional consequence predict phenotype.
Strehlow V, Heyne HO, Vlaskamp DRM, Marwick KFM, Rudolf G, de Bellescize J, Biskup S, Brilstra EH, Brouwer OF, Callenbach PMC, Hentschel J, Hirsch E, Kind PC, Mignot C, Platzer K, Rump P, Skehel PA, Wyllie DJA, Hardingham GE, van Ravenswaaij-Arts CMA, Lesca G, Lemke JR; GRIN2A study group. Strehlow V, et al. Brain. 2019 Jan 1;142(1):80-92. doi: 10.1093/brain/awy304. Brain. 2019. PMID: 30544257 Free PMC article.
The phenotypic spectrum ranged from normal or near-normal development with mild epilepsy and speech delay/apraxia to severe developmental and epileptic encephalopathy, often within the epilepsy-aphasia spectrum. ...Other phenotypes such as MRI a …
The phenotypic spectrum ranged from normal or near-normal development with mild epilepsy and speech delay/apraxia to severe develo …
Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy.
Takata A, Nakashima M, Saitsu H, Mizuguchi T, Mitsuhashi S, Takahashi Y, Okamoto N, Osaka H, Nakamura K, Tohyama J, Haginoya K, Takeshita S, Kuki I, Okanishi T, Goto T, Sasaki M, Sakai Y, Miyake N, Miyatake S, Tsuchida N, Iwama K, Minase G, Sekiguchi F, Fujita A, Imagawa E, Koshimizu E, Uchiyama Y, Hamanaka K, Ohba C, Itai T, Aoi H, Saida K, Sakaguchi T, Den K, Takahashi R, Ikeda H, Yamaguchi T, Tsukamoto K, Yoshitomi S, Oboshi T, Imai K, Kimizu T, Kobayashi Y, Kubota M, Kashii H, Baba S, Iai M, Kira R, Hara M, Ohta M, Miyata Y, Miyata R, Takanashi JI, Matsui J, Yokochi K, Shimono M, Amamoto M, Takayama R, Hirabayashi S, Aiba K, Matsumoto H, Nabatame S, Shiihara T, Kato M, Matsumoto N. Takata A, et al. Nat Commun. 2019 Jun 7;10(1):2506. doi: 10.1038/s41467-019-10482-9. Nat Commun. 2019. PMID: 31175295 Free PMC article.
Although there are many known Mendelian genes linked to epileptic or developmental and epileptic encephalopathy (EE/DEE), its genetic architecture is not fully explained. Here, we address this incompleteness by analyzing exomes of 743 EE/DEE cases and …
Although there are many known Mendelian genes linked to epileptic or developmental and epileptic encephalopathy …
Rates of Status Epilepticus and Sudden Unexplained Death in Epilepsy in People With Genetic Developmental and Epileptic Encephalopathies.
Donnan AM, Schneider AL, Russ-Hall S, Churilov L, Scheffer IE. Donnan AM, et al. Neurology. 2023 Apr 18;100(16):e1712-e1722. doi: 10.1212/WNL.0000000000207080. Epub 2023 Feb 7. Neurology. 2023. PMID: 36750385 Free PMC article.
BACKGROUND AND OBJECTIVES: The genetic developmental and epileptic encephalopathies (DEEs) comprise a large group of severe epilepsy syndromes, with a wide phenotypic spectrum. Currently, the rates of convulsive status epilepticus (CSE), nonconvulsive …
BACKGROUND AND OBJECTIVES: The genetic developmental and epileptic encephalopathies (DEEs) comprise a large group of se …
Delineating clinical and developmental outcomes in STXBP1-related disorders.
Xian J, Thalwitzer KM, McKee J, Sullivan KR, Brimble E, Fitch E, Toib J, Kaufman MC, deCampo D, Cunningham K, Pierce SR, Goss J, Rigby CS, Syrbe S, Boland M, Prosser B, Fitter N, Ruggiero SM, Helbig I. Xian J, et al. Brain. 2023 Dec 1;146(12):5182-5197. doi: 10.1093/brain/awad287. Brain. 2023. PMID: 38015929 Free PMC article.
STXBP1-related disorders are among the most common genetic epilepsies and neurodevelopmental disorders. However, the longitudinal epilepsy course and developmental end points, have not yet been described in detail, which is a critical prerequisite for clinical trial …
STXBP1-related disorders are among the most common genetic epilepsies and neurodevelopmental disorders. However, the longitudinal epileps …
967 results