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SCN1B-linked early infantile developmental and epileptic encephalopathy.
Aeby A, Sculier C, Bouza AA, Askar B, Lederer D, Schoonjans AS, Vander Ghinst M, Ceulemans B, Offord J, Lopez-Santiago LF, Isom LL. Aeby A, et al. Ann Clin Transl Neurol. 2019 Dec;6(12):2354-2367. doi: 10.1002/acn3.50921. Epub 2019 Nov 11. Ann Clin Transl Neurol. 2019. PMID: 31709768 Free PMC article.
OBJECTIVE: Patients with Early Infantile Epileptic Encephalopathy (EIEE) 52 have inherited, homozygous variants in the gene SCN1B, encoding the voltage-gated sodium channel (VGSC) beta1 and beta1B non-pore-forming subunits. ...INTERPRETATION: Im …
OBJECTIVE: Patients with Early Infantile Epileptic Encephalopathy (EIEE) 52 have inherited, homozygous va …
A Novel SCN8A mutation in a case of early-onset infantile epileptic encephalopathy: A Case Report.
Keshri S, Goel AK, Shah S, Garg AK. Keshri S, et al. Acta Biomed. 2022 Feb 21;92(S1):e2021261. doi: 10.23750/abm.v92iS1.11781. Acta Biomed. 2022. PMID: 35188110 Free PMC article.
SCN8A gene encodes sodium channel alpha subunit Nav1.6, and its mutation is associated with Early Infantile Epileptic Encephalopathy-13 (EIEE-13). The mean age of onset is 4-5 months. ...Whole exome sequencing revealed a heterozygous mutation in …
SCN8A gene encodes sodium channel alpha subunit Nav1.6, and its mutation is associated with Early Infantile Epileptic
Phenotypic and genetic characteristics of 24 cases of early infantile epileptic encephalopathy in East China, including a rare case of biallelic UGDH mutations.
Jiang L, Bi S, Lin L, He F, Deng F. Jiang L, et al. Mol Genet Genomic Med. 2023 Dec;11(12):e2269. doi: 10.1002/mgg3.2269. Epub 2023 Aug 18. Mol Genet Genomic Med. 2023. PMID: 37593999 Free PMC article.
BACKGROUND: Early infantile epileptic encephalopathy (EIEE) is a group of highly heterogeneous diseases, both phenotypically and genetically. ...This study further enriches the known spectrum of pathogenic EIEE genes....
BACKGROUND: Early infantile epileptic encephalopathy (EIEE) is a group of highly heterogeneous diseases, …
Epilepsy and mental retardation restricted to females: X-linked epileptic infantile encephalopathy of unusual inheritance.
Duszyc K, Terczynska I, Hoffman-Zacharska D. Duszyc K, et al. J Appl Genet. 2015 Feb;56(1):49-56. doi: 10.1007/s13353-014-0243-8. Epub 2014 Sep 10. J Appl Genet. 2015. PMID: 25204757 Review.
Epilepsy in females with mental retardation (EFMR) is a rare early infantile epileptic encephalopathy (EIEE), phenotypically resembling Dravet syndrome (DS). ...This singular mode might be explained by cell interference as a pathogenic molecular …
Epilepsy in females with mental retardation (EFMR) is a rare early infantile epileptic encephalopathy (EIEE
Boricua Founder Variant in FRRS1L Causes Epileptic Encephalopathy With Hyperkinetic Movements.
Abdelmoumen I, Jimenez S, Valencia I, Melvin J, Legido A, Diaz-Diaz MM, Griffith C, Massingham LJ, Yelton M, Rodríguez-Hernández J, Schnur RE, Walsh LE, Cristancho AG, Bergqvist CA, McWalter K, Mathieson I, Belbin GM, Kenny EE, Ortiz-Gonzalez XR, Schneider MC. Abdelmoumen I, et al. J Child Neurol. 2021 Feb;36(2):93-98. doi: 10.1177/0883073820953001. Epub 2020 Sep 15. J Child Neurol. 2021. PMID: 32928027 Free PMC article.
OBJECTIVE: To describe a founder mutation effect and the clinical phenotype of homozygous FRRS1L c.737_739delGAG (p.Gly246del) variant in 15 children of Puerto Rican (Boricua) ancestry presenting with early infantile epileptic encephalopathy (EIEE
OBJECTIVE: To describe a founder mutation effect and the clinical phenotype of homozygous FRRS1L c.737_739delGAG (p.Gly246del) variant in 15 …
Phenotypes of GNAO1 Variants in a Chinese Cohort.
Yang X, Niu X, Yang Y, Cheng M, Zhang J, Chen J, Yang Z, Zhang Y. Yang X, et al. Front Neurol. 2021 May 28;12:662162. doi: 10.3389/fneur.2021.662162. eCollection 2021. Front Neurol. 2021. PMID: 34122306 Free PMC article.
Varying degrees of developmental delay (DD) were present in all 11 patients. The phenotypes were diagnosed as early infantile epileptic encephalopathy (EIEE) in two (18%) patients, which were further diagnosed as West syndrome. Movement disorder …
Varying degrees of developmental delay (DD) were present in all 11 patients. The phenotypes were diagnosed as early infantile
Peptide Tags and Domains for Expression and Detection of Mammalian Membrane Proteins at the Cell Surface.
Jaramillo-Martinez V, Ganapathy V, Urbatsch IL. Jaramillo-Martinez V, et al. Methods Mol Biol. 2022;2507:337-358. doi: 10.1007/978-1-0716-2368-8_18. Methods Mol Biol. 2022. PMID: 35773591
We chose this example because several mutations in NaCT, distributed throughout the protein, cause a severe neurologic disease known as early infantile epileptic encephalopathy-25 (EIEE-25). NaCT was modified with various peptide t …
We chose this example because several mutations in NaCT, distributed throughout the protein, cause a severe neurologic disease known as e
[Early infantile epileptic encephalopathy and glycine encephalopathy].
González de Dios J, Moya M, Pastore C, Izura V, Carratalà F. González de Dios J, et al. Rev Neurol. 1997 Dec;25(148):1916-8. Rev Neurol. 1997. PMID: 9528030 Spanish.
INTRODUCTION: Early infantile epileptic encephalopathy (EIEE) with suppression burst activity in EEG (Ohtahara syndrome) is a rare type of epileptic encephalopathy in infancy and represents the earliest type of age-related symptomatic generalize …
INTRODUCTION: Early infantile epileptic encephalopathy (EIEE) with suppression burst activity in EEG (Oht …
[Genotypes and clinical features of neonatal-onset genetic epilepsy in 141 patients].
Chen JY, Yang Y, Niu XY, Zhang J, Chen Y, Yang XL, Yang ZX, Jiang YW, Zhang YH. Chen JY, et al. Zhonghua Er Ke Za Zhi. 2021 Sep 2;59(9):767-771. doi: 10.3760/cma.j.cn112140-20210206-00113. Zhonghua Er Ke Za Zhi. 2021. PMID: 34645217 Chinese.
Results: A total of 141 neonatal-onset epilepsy patients with identified gene variants were enrolled, including 76 males and 65 females and involving 33 epilepsy genes. Top five genes were KCNQ2 (56 cases), SCN2A (25 cases), STXBP1 (9 cases), CDKL5 (8 cases) and KCNT1 (6 c …
Results: A total of 141 neonatal-onset epilepsy patients with identified gene variants were enrolled, including 76 males and 65 females and …
Metformin, valproic acid, and starvation induce seizures in a patient with partial SLC13A5 deficiency: a case of pharmaco-synergistic heterozygosity.
Kopel J, Grooms A, Ganapathy V, Clothier J. Kopel J, et al. Psychiatr Genet. 2021 Feb 1;31(1):32-35. doi: 10.1097/YPG.0000000000000269. Psychiatr Genet. 2021. PMID: 33290383
In recent years, patients homozygous for recessive mutations in SLC13A5, known as SLC13A5 deficiency [early infantile epileptic encephalopathy-25 (EIEE-25)], exhibit severe global developmental delay, early-onset intractable seizur …
In recent years, patients homozygous for recessive mutations in SLC13A5, known as SLC13A5 deficiency [early infantile epile
11 results