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Quoted phrase not found in phrase index: "Benign familial neonatal-infantile seizures 1"
Page 1
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 intell …
Pathogenic variants in SCN2A are reported in a spectrum of neurodevelopmental disorders including developmental and epileptic encephalopathi …
PRRT2 mutations in Japanese patients with benign infantile epilepsy and paroxysmal kinesigenic dyskinesia.
Okumura A, Shimojima K, Kurahashi H, Numoto S, Shimada S, Ishii A, Ohmori I, Takahashi S, Awaya T, Kubota T, Sakakibara T, Ishihara N, Hattori A, Torisu H, Tohyama J, Inoue T, Haibara A, Nishida T, Yuhara Y, Miya K, Tanaka R, Hirose S, Yamamoto T. Okumura A, et al. Seizure. 2019 Oct;71:1-5. doi: 10.1016/j.seizure.2019.05.017. Epub 2019 May 20. Seizure. 2019. PMID: 31154286 Free article.
PURPOSE: This study was performed to clarify the clinical features of Japanese patients with PRRT2 mutations. METHODS: The PRRT2 gene was analyzed in 135 patients with benign infantile epilepsy (BIE) or paroxysmal kinesigenic dyskinesia (PKD) using a direct s …
PURPOSE: This study was performed to clarify the clinical features of Japanese patients with PRRT2 mutations. METHODS: The PRRT2 gene was an …
Benign convulsions in newborns and infants: occurrence, clinical course and prognosis.
Hrastovec A, Hostnik T, Neubauer D. Hrastovec A, et al. Eur J Paediatr Neurol. 2012 Jan;16(1):64-73. doi: 10.1016/j.ejpn.2011.10.006. Epub 2011 Nov 23. Eur J Paediatr Neurol. 2012. PMID: 22116015
There are no exact data on their occurrence. AIM: We have reviewed medical histories of children with benign non-epileptic or benign epileptic events: benign myoclonus of early infancy, benign neonatal sleep myoclonus, benign sleep myoclo …
There are no exact data on their occurrence. AIM: We have reviewed medical histories of children with benign non-epileptic or beni …
Diversity of Clinical and Molecular Characteristics in Korean Patients with 16p11.2 Microdeletion Syndrome.
Han JY, Cho YG, Jo DS, Park J. Han JY, et al. Int J Mol Sci. 2023 Dec 23;25(1):253. doi: 10.3390/ijms25010253. Int J Mol Sci. 2023. PMID: 38203422 Free PMC article.
All patients with 16p11.2 microdeletions exhibited developmental delay and/or intellectual disability. Sixty percent of patients presented with neonatal hypotonia, but muscle weakness improved with age. Benign infantile epilepsy manifested between the …
All patients with 16p11.2 microdeletions exhibited developmental delay and/or intellectual disability. Sixty percent of patients presented w …
Familial neonatal seizures with intellectual disability caused by a microduplication of chromosome 2q24.3.
Heron SE, Scheffer IE, Grinton BE, Eyre H, Oliver KL, Bain S, Berkovic SF, Mulley JC. Heron SE, et al. Epilepsia. 2010 Sep;51(9):1865-9. doi: 10.1111/j.1528-1167.2010.02558.x. Epilepsia. 2010. PMID: 20384724 Free article.
A family with dominantly inherited neonatal seizures and intellectual disability was atypical for neonatal and infantile seizure syndromes associated with potassium (KCNQ2 and KCNQ3) and sodium (SCN2A) channel mutations. Microsatellite markers linked t …
A family with dominantly inherited neonatal seizures and intellectual disability was atypical for neonatal and infan …
Sacred disease secrets revealed: the genetics of human epilepsy.
Turnbull J, Lohi H, Kearney JA, Rouleau GA, Delgado-Escueta AV, Meisler MH, Cossette P, Minassian BA. Turnbull J, et al. Hum Mol Genet. 2005 Sep 1;14(17):2491-500. doi: 10.1093/hmg/ddi250. Epub 2005 Jul 27. Hum Mol Genet. 2005. PMID: 16049035 Corrected and republished. Review.
A genetically determined generalized hyperexcitability had been predicted in primarily generalized seizures, but surprisingly the first epilepsy gene discovered, CHRNA4, was in a focal (frontal lobe)-onset syndrome. ...CHRNA4 led the way to mutation identific …
A genetically determined generalized hyperexcitability had been predicted in primarily generalized seizures, but surprisingly …
Benign familial infantile convulsions: linkage to chromosome 16p12-q12 in 14 families.
Weber YG, Berger A, Bebek N, Maier S, Karafyllakes S, Meyer N, Fukuyama Y, Halbach A, Hikel C, Kurlemann G, Neubauer B, Osawa M, Püst B, Rating D, Saito K, Stephani U, Tauer U, Lehmann-Horn F, Jurkat-Rott K, Lerche H. Weber YG, et al. Epilepsia. 2004 Jun;45(6):601-9. doi: 10.1111/j.0013-9580.2004.48203.x. Epilepsia. 2004. PMID: 15144424 Free article.
PURPOSE: Benign familial infantile convulsions (BFIC) is a form of idiopathic epilepsy. ...In all analyzed families, we found no evidence for linkage to the BFIC loci on chromosomes 19q and 2q, as well as to the known loci for benign familial …
PURPOSE: Benign familial infantile convulsions (BFIC) is a form of idiopathic epilepsy. ...In all analyzed famil …
Benign neonatal sleep myoclonus: our experience of 15 Japanese cases.
Suzuki Y, Toshikawa H, Kimizu T, Kimura S, Ikeda T, Mogami Y, Yanagihara K. Suzuki Y, et al. Brain Dev. 2015 Jan;37(1):71-5. doi: 10.1016/j.braindev.2014.03.010. Epub 2014 Apr 18. Brain Dev. 2015. PMID: 24750849
PURPOSE: Benign neonatal sleep myoclonus is a non-epileptic movement disorder that may mimic neonatal seizures. ...CONCLUSION: Our study suggests that benign neonatal sleep myoclonus is related to migraine. With the high rate of famili …
PURPOSE: Benign neonatal sleep myoclonus is a non-epileptic movement disorder that may mimic neonatal seizures. …
Genetic testing in benign familial epilepsies of the first year of life: clinical and diagnostic significance.
Zara F, Specchio N, Striano P, Robbiano A, Gennaro E, Paravidino R, Vanni N, Beccaria F, Capovilla G, Bianchi A, Caffi L, Cardilli V, Darra F, Bernardina BD, Fusco L, Gaggero R, Giordano L, Guerrini R, Incorpora G, Mastrangelo M, Spaccini L, Laverda AM, Vecchi M, Vanadia F, Veggiotti P, Viri M, Occhi G, Budetta M, Taglialatela M, Coviello DA, Vigevano F, Minetti C. Zara F, et al. Epilepsia. 2013 Mar;54(3):425-36. doi: 10.1111/epi.12089. Epub 2013 Jan 29. Epilepsia. 2013. PMID: 23360469 Free article.
PURPOSE: To dissect the genetics of benign familial epilepsies of the first year of life and to assess the extent of the genetic overlap between benign familial neonatal seizures (BFNS), benign familial neonatal-in …
PURPOSE: To dissect the genetics of benign familial epilepsies of the first year of life and to assess the extent of the genet …
Neurodevelopmental outcomes in a cohort of Australian families with self-limited familial epilepsy of neonatal/infantile onset.
Innes EA, Marne FAL, Macintosh R, Nevin SM, Briggs NE, Vivekanandarajah S, Webster RI, Sachdev RK, Bye AME. Innes EA, et al. Seizure. 2024 Feb;115:1-13. doi: 10.1016/j.seizure.2023.12.013. Epub 2023 Dec 26. Seizure. 2024. PMID: 38160512
OBJECTIVES: To determine: i) seizure recurrence; ii) developmental disability; iii) co-morbidities and risk factors in self-limited familial neonatal and/or infantile epilepsy (SeLFE) in a multigenerational study. ...CONCLUSIONS: Individuals with SeLFE …
OBJECTIVES: To determine: i) seizure recurrence; ii) developmental disability; iii) co-morbidities and risk factors in self-limited famil …
55 results