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Quoted phrase not found in phrase index: "Developmental and epileptic encephalopathy 108"
Page 1
De novo and bi-allelic variants in AP1G1 cause neurodevelopmental disorder with developmental delay, intellectual disability, and epilepsy.
Usmani MA, Ahmed ZM, Magini P, Pienkowski VM, Rasmussen KJ, Hernan R, Rasheed F, Hussain M, Shahzad M, Lanpher BC, Niu Z, Lim FY, Pippucci T, Ploski R, Kraus V, Matuszewska K, Palombo F, Kianmahd J; UCLA Clinical Genomics Center; Martinez-Agosto JA, Lee H, Colao E, Motazacker MM, Brigatti KW, Puffenberger EG, Riazuddin SA, Gonzaga-Jauregui C, Chung WK, Wagner M, Schultz MJ, Seri M, Kievit AJA, Perrotti N, Wassink-Ruiter JSK, van Bokhoven H, Riazuddin S, Riazuddin S. Usmani MA, et al. Am J Hum Genet. 2021 Jul 1;108(7):1330-1341. doi: 10.1016/j.ajhg.2021.05.007. Epub 2021 Jun 7. Am J Hum Genet. 2021. PMID: 34102099 Free PMC article.
, and c.2459C>G [p.Pro820Arg]) in AP1G1, encoding gamma-1 subunit of adaptor-related protein complex 1 (AP1gamma1), associated with a neurodevelopmental disorder (NDD) characterized by mild to severe ID, epilepsy, and developmental delay in eleven families from d …
, and c.2459C>G [p.Pro820Arg]) in AP1G1, encoding gamma-1 subunit of adaptor-related protein complex 1 (AP1gamma1), associated with a neu …
Safety and effectiveness of hormonal treatment versus hormonal treatment with vigabatrin for infantile spasms (ICISS): a randomised, multicentre, open-label trial.
O'Callaghan FJ, Edwards SW, Alber FD, Hancock E, Johnson AL, Kennedy CR, Likeman M, Lux AL, Mackay M, Mallick AA, Newton RW, Nolan M, Pressler R, Rating D, Schmitt B, Verity CM, Osborne JP; participating investigators. O'Callaghan FJ, et al. Lancet Neurol. 2017 Jan;16(1):33-42. doi: 10.1016/S1474-4422(16)30294-0. Epub 2016 Nov 10. Lancet Neurol. 2017. PMID: 27838190 Free article. Clinical Trial.
BACKGROUND: Infantile spasms constitutes a severe infantile epilepsy syndrome that is difficult to treat and has a high morbidity. ...Block randomisation was stratified for hormonal treatment and risk of developmental impairment. Parents and clinicians were not mask …
BACKGROUND: Infantile spasms constitutes a severe infantile epilepsy syndrome that is difficult to treat and has a high morbidity. .. …
Genetic Neonatal-Onset Epilepsies and Developmental/Epileptic Encephalopathies with Movement Disorders: A Systematic Review.
Spagnoli C, Fusco C, Percesepe A, Leuzzi V, Pisani F. Spagnoli C, et al. Int J Mol Sci. 2021 Apr 18;22(8):4202. doi: 10.3390/ijms22084202. Int J Mol Sci. 2021. PMID: 33919646 Free PMC article.
Despite expanding next generation sequencing technologies and increasing clinical interest into complex neurologic phenotypes associating epilepsies and developmental/epileptic encephalopathies (DE/EE) with movement disorders (MD), these monogenic conditions …
Despite expanding next generation sequencing technologies and increasing clinical interest into complex neurologic phenotypes associating ep …
Infantile spasms (West syndrome): update and resources for pediatricians and providers to share with parents.
Wheless JW, Gibson PA, Rosbeck KL, Hardin M, O'Dell C, Whittemore V, Pellock JM. Wheless JW, et al. BMC Pediatr. 2012 Jul 25;12:108. doi: 10.1186/1471-2431-12-108. BMC Pediatr. 2012. PMID: 22830456 Free PMC article. Review.
BACKGROUND: Infantile spasms (IS; West syndrome) is a severe form of encephalopathy that typically affects infants younger than 2 years old. ...Several on-line educational and supportive resources for families and caregivers of patients with IS were identified. CONCLUSIONS …
BACKGROUND: Infantile spasms (IS; West syndrome) is a severe form of encephalopathy that typically affects infants younger than 2 yea …
Risk for infantile spasms after acute symptomatic neonatal seizures.
Glass HC, Grinspan ZM, Li Y, McNamara NA, Chang T, Chu CJ, Massey SL, Abend NS, Lemmon ME, Thomas C, McCulloch CE, Shellhaas RA; Neonatal Seizure Registry Study Group. Glass HC, et al. Epilepsia. 2020 Dec;61(12):2774-2784. doi: 10.1111/epi.16749. Epub 2020 Nov 13. Epilepsia. 2020. PMID: 33188528 Free PMC article.
OBJECTIVE: Infantile spasms (IS) is a severe epilepsy in early childhood. Early treatment of IS provides the best chance of seizure remission and favorable developmental outcome. We aimed to develop a prediction rule to accurately predict which neonate …
OBJECTIVE: Infantile spasms (IS) is a severe epilepsy in early childhood. Early treatment of IS provides the best chance of seizure r …
Risk factors associated with epilepsy development in children with cerebral palsy.
Karatoprak E, Sözen G, Saltık S. Karatoprak E, et al. Childs Nerv Syst. 2019 Jul;35(7):1181-1187. doi: 10.1007/s00381-019-04152-w. Epub 2019 Apr 22. Childs Nerv Syst. 2019. PMID: 31011806
The purpose of this study was to determine the risk factors predicting the development of epilepsy considering prenatal, perinatal, and natal characteristics; associated impairments; and cranial imaging findings in our patient population with cerebral palsy at a ter …
The purpose of this study was to determine the risk factors predicting the development of epilepsy considering prenatal, perin …
National survey on West syndrome in Korea.
Hwang YS; Korean Child Neurology Society. Hwang YS, et al. Brain Dev. 2001 Nov;23(7):565-9. doi: 10.1016/s0387-7604(01)00265-0. Brain Dev. 2001. PMID: 11701256
Regarding the etiology, 138 cases (38.5%) were cryptogenic. For the 220 symptomatic cases, hypoxic-ischemic encephalopathy (HIE) was the most common etiologic factor (50.8%), followed by central nervous system anomaly including malformation of cortical development (21.4%), …
Regarding the etiology, 138 cases (38.5%) were cryptogenic. For the 220 symptomatic cases, hypoxic-ischemic encephalopathy (HIE) was …
Rufinamide as add-on therapy in children with epileptic encephalopathies other than Lennox-Gastaut syndrome: A study of 34 patients.
Caraballo RH, Pociecha J, Reyes G, Espeche A, Galichio S, Fasulo L, Semprino M. Caraballo RH, et al. Epilepsy Behav. 2020 Jul;108:107074. doi: 10.1016/j.yebeh.2020.107074. Epub 2020 Apr 23. Epilepsy Behav. 2020. PMID: 32334364
OBJECTIVE: Here, we present a multicenter series of patients with developmental and epileptic encephalopathies (DEE) and related electroclinical patterns (REP) other than Lennox-Gastaut syndrome (LGS) who were treated with rufinamide as add-on therapy. ...
OBJECTIVE: Here, we present a multicenter series of patients with developmental and epileptic encephalopathies (DEE) an …
Clustered mutations in the GRIK2 kainate receptor subunit gene underlie diverse neurodevelopmental disorders.
Stolz JR, Foote KM, Veenstra-Knol HE, Pfundt R, Ten Broeke SW, de Leeuw N, Roht L, Pajusalu S, Part R, Rebane I, Õunap K, Stark Z, Kirk EP, Lawson JA, Lunke S, Christodoulou J, Louie RJ, Rogers RC, Davis JM, Innes AM, Wei XC, Keren B, Mignot C, Lebel RR, Sperber SM, Sakonju A, Dosa N, Barge-Schaapveld DQCM, Peeters-Scholte CMPCD, Ruivenkamp CAL, van Bon BW, Kennedy J, Low KJ, Ellard S, Pang L, Junewick JJ, Mark PR, Carvill GL, Swanson GT. Stolz JR, et al. Am J Hum Genet. 2021 Sep 2;108(9):1692-1709. doi: 10.1016/j.ajhg.2021.07.007. Epub 2021 Aug 9. Am J Hum Genet. 2021. PMID: 34375587 Free PMC article.
Moreover, we observed emerging genotype-phenotype correlations, including the presence of severe epilepsy in individuals with the p.Thr660Lys variant and hypomyelination in individuals with either the p.Thr660Lys or p.Thr660Arg variant. Collectively, these results demonstr …
Moreover, we observed emerging genotype-phenotype correlations, including the presence of severe epilepsy in individuals with the p.T …
Developmental outcome after surgery in focal cortical dysplasia patients with early-onset epilepsy.
Kimura N, Takahashi Y, Shigematsu H, Imai K, Ikeda H, Ootani H, Takayama R, Mogami Y, Kimura N, Baba K, Matsuda K, Tottori T, Usui N, Inoue Y. Kimura N, et al. Epilepsy Res. 2014 Dec;108(10):1845-52. doi: 10.1016/j.eplepsyres.2014.09.010. Epub 2014 Sep 22. Epilepsy Res. 2014. PMID: 25304919
The purpose of this study was to investigate the developmental outcome after surgery for early-onset epilepsy in patients with focal cortical dysplasia (FCD). ...In four patients with presurgical DQ-IQ70 and no spasm, two showed the same or higher RIMA than normal a …
The purpose of this study was to investigate the developmental outcome after surgery for early-onset epilepsy in patients with …
16 results