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 1
1999 1
2001 1
2008 1
2010 1
2011 1
2012 1
2013 1
2015 1
2016 1
2017 1
2018 3
2019 3
2020 3
2022 4
2023 7
2024 1

Text availability

Article attribute

Article type

Publication date

Search Results

28 results

Results by year

Filters applied: . Clear all
Quoted phrase not found in phrase index: "Developmental and epileptic encephalopathy 104"
Page 1
POU3F3-related disorder: Defining the phenotype and expanding the molecular spectrum.
Rossi A, Blok LS, Neuser S, Klöckner C, Platzer K, Faivre LO, Weigand H, Dentici ML, Tartaglia M, Niceta M, Alfieri P, Srivastava S, Coulter D, Smith L, Vinorum K, Cappuccio G, Brunetti-Pierri N, Torun D, Arslan M, Lauridsen MF, Murch O, Irving R, Lynch SA, Mehta SG, Carmichael J, Zonneveld-Huijssoon E, de Vries B, Kleefstra T, Johannesen KM, Westphall IT, Hughes SS, Smithson S, Evans J, Dudding-Byth T, Simon M, van Binsbergen E, Herkert JC, Beunders G, Oppermann H, Bakal M, Møller RS, Rubboli G, Bayat A. Rossi A, et al. Clin Genet. 2023 Aug;104(2):186-197. doi: 10.1111/cge.14353. Epub 2023 May 10. Clin Genet. 2023. PMID: 37165752
POU3F3 variants cause developmental delay, behavioral problems, hypotonia and dysmorphic features. ...In silico structural modeling predicted that all (likely) pathogenic variants destabilize the DNA-binding region of POU3F3. ...
POU3F3 variants cause developmental delay, behavioral problems, hypotonia and dysmorphic features. ...In silico structural modeling …
Landscape of genetic infantile epileptic spasms syndrome-A multicenter cohort of 124 children from India.
Nagarajan B, Gowda VK, Yoganathan S, Sharawat IK, Srivastava K, Vora N, Badheka R, Danda S, Kalane U, Kaur A, Madaan P, Mehta S, Negi S, Panda PK, Rajadhyaksha S, Saini AG, Saini L, Shah S, Srinivasan VM, Suthar R, Thomas M, Vyas S, Sankhyan N, Sahu JK. Nagarajan B, et al. Epilepsia Open. 2023 Dec;8(4):1383-1404. doi: 10.1002/epi4.12811. Epub 2023 Aug 25. Epilepsia Open. 2023. PMID: 37583270 Free PMC article.
OBJECTIVE: Literature on the genotypic spectrum of Infantile Epileptic Spasms Syndrome (IESS) in children is scarce in developing countries. ...Seizures other than epileptic spasms were observed in 83 children (66.9%). Pre-existing epilepsy syndrome wa …
OBJECTIVE: Literature on the genotypic spectrum of Infantile Epileptic Spasms Syndrome (IESS) in children is scarce in developing cou …
Characterization of novel CACNA1A splice variants by RNA-sequencing in patients with episodic or congenital ataxia.
Riant F, Burglen L, Corpechot M, Robert J, Durr A, Solé G, Petit F, Freihuber C, De Marco O, Sarret C, Castelnovo G, Devillard F, Afenjar A, Héron B, Lasserve ET. Riant F, et al. Clin Genet. 2023 Sep;104(3):365-370. doi: 10.1111/cge.14358. Epub 2023 May 13. Clin Genet. 2023. PMID: 37177896
Loss of function variants in CACNA1A cause a broad spectrum of neurological disorders, including episodic ataxia, congenital or progressive ataxias, epileptic manifestations or developmental delay. Variants located on the AG/GT consensus splice sites are usually con …
Loss of function variants in CACNA1A cause a broad spectrum of neurological disorders, including episodic ataxia, congenital or progressive …
Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia.
Gorman KM, Meyer E, Grozeva D, Spinelli E, McTague A, Sanchis-Juan A, Carss KJ, Bryant E, Reich A, Schneider AL, Pressler RM, Simpson MA, Debelle GD, Wassmer E, Morton J, Sieciechowicz D, Jan-Kamsteeg E, Paciorkowski AR, King MD, Cross JH, Poduri A, Mefford HC, Scheffer IE, Haack TB, McCullagh G; Deciphering Developmental Disorders Study; UK10K Consortium; NIHR BioResource; Millichap JJ, Carvill GL, Clayton-Smith J, Maher ER, Raymond FL, Kurian MA. Gorman KM, et al. Am J Hum Genet. 2019 May 2;104(5):948-956. doi: 10.1016/j.ajhg.2019.03.005. Epub 2019 Apr 11. Am J Hum Genet. 2019. PMID: 30982612 Free PMC article.
The occurrence of non-epileptic hyperkinetic movements in the context of developmental epileptic encephalopathies is an increasingly recognized phenomenon. ...We report bi-allelic loss-of-function CACNA1B variants in six children from three unrelated f …
The occurrence of non-epileptic hyperkinetic movements in the context of developmental epileptic encephalopathies …
A recurrent de novo variant in NUSAP1 escapes nonsense-mediated decay and leads to microcephaly, epilepsy, and developmental delay.
Mo A, Paz-Ebstein E, Yanovsky-Dagan S, Lai A, Mor-Shaked H, Gilboa T, Yang E, Shao DD, Walsh CA, Harel T. Mo A, et al. Clin Genet. 2023 Jul;104(1):73-80. doi: 10.1111/cge.14335. Epub 2023 Apr 2. Clin Genet. 2023. PMID: 37005340 Free PMC article.
(Tyr403Ter)) in NUSAP1. Both individuals had microcephaly, severe developmental delay, brain abnormalities, and seizures. The gene is predicted to be tolerant of heterozygous loss-of-function mutations, and we show that the mutant transcript escapes nonsense …
(Tyr403Ter)) in NUSAP1. Both individuals had microcephaly, severe developmental delay, brain abnormalities, and seizures. The …
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.
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 cohort. ...No clinical profile was observed for transmitting males. This is the fir …
Seizures occurred in clusters in 94% of individuals, with seizures resolving in 28% at an average age of 17.5 years. Developmental de …
CHARACTERISTICS OF WEST SYNDROME IN GEORGIA, PRELIMINARY RESULTS OF THE PROSPECTIVE STUDY.
Kvernadze A, Tatishvili N, Kipiani T, Lomidze G. Kvernadze A, et al. Georgian Med News. 2017 Nov;(272):104-109. Georgian Med News. 2017. PMID: 29227268
All patients were examined neurologically, investigated with prolonged sleep and awake video - EEG, brain MRI, developmental screening tests (Ages & Stages Questionnaires, Third Edition, ASQ-3) at the time of admission. ...There was no relationship between de …
All patients were examined neurologically, investigated with prolonged sleep and awake video - EEG, brain MRI, developmental s …
Motor, cognitive and behavioural outcomes after neonatal hypoxic-ischaemic encephalopathy.
Hortigüela MM, Martínez-Biarge M, Conejo D, Vega-Del-Val C, Arnaez J; Grupo ARAHIP. Hortigüela MM, et al. An Pediatr (Engl Ed). 2024 Feb;100(2):104-114. doi: 10.1016/j.anpede.2024.01.009. Epub 2024 Feb 7. An Pediatr (Engl Ed). 2024. PMID: 38331678 Free article.
We analysed the findings of neonatal neuroimaging and neurodevelopmental test scores at 3 years (Bayley-III, Peabody Picture Vocabulary Test and Child Behavior Checklist). ...Of these 42, 10 (24%) had adverse outcomes (visual or hearing impairment, epilepsy, cerebra …
We analysed the findings of neonatal neuroimaging and neurodevelopmental test scores at 3 years (Bayley-III, Peabody Picture Vocabula …
Population pharmacokinetics, enzyme occupancy, and 24S-hydroxycholesterol modeling of soticlestat, a novel cholesterol 24-hydroxylase inhibitor, in healthy adults.
Yin W, Facius A, Wagner T, Tsai M, Asgharnejad M, Lahu G, Vakilynejad M. Yin W, et al. Clin Transl Sci. 2023 Jul;16(7):1149-1162. doi: 10.1111/cts.13517. Epub 2023 May 22. Clin Transl Sci. 2023. PMID: 37212649 Free PMC article.
Subsequently, model-based simulations were conducted to identify dosing strategies for phase II trials in children and adults with developmental and epileptic encephalopathies (DEEs). Four phase I trials of healthy adults involving oral administration of soti …
Subsequently, model-based simulations were conducted to identify dosing strategies for phase II trials in children and adults with develo …
A founder PPIL1 variant underlies a recognizable form of microlissencephaly with pontocerebellar hypoplasia.
Abdel-Salam GMH, Abdel-Hamid MS. Abdel-Salam GMH, et al. Clin Genet. 2023 Sep;104(3):356-364. doi: 10.1111/cge.14357. Epub 2023 May 15. Clin Genet. 2023. PMID: 37190898
Haplotype analysis confirmed that this variant has a founder effect in our population. All our patients displayed early onset drug-resistant epilepsy, profound developmental delay, and visual impairment. Remarkably, they presented with recognizable imaging findings …
Haplotype analysis confirmed that this variant has a founder effect in our population. All our patients displayed early onset drug-resistant …
28 results