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Quoted phrase not found in phrase index: "Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy"
Page 1
CASK related disorder: Epilepsy and developmental outcome.
Giacomini T, Nuovo S, Zanni G, Mancardi MM, Cusmai R, Pepi C, Bertini E, Valente EM, Battini R, Ferrari A, Romaniello R, Zucca C, Borgatti R, Uccella S, Severino M, Striano P, Pistorio A, Prato G, De Grandis E, Nobili L, Pisciotta L. Giacomini T, et al. Eur J Paediatr Neurol. 2021 Mar;31:61-69. doi: 10.1016/j.ejpn.2021.02.006. Epub 2021 Feb 19. Eur J Paediatr Neurol. 2021. PMID: 33640666
Developmental delay degree was not statistically different among patients with or without seizures but feeding difficulties were more frequent in patients with epilepsy. CONCLUSIONS: epilepsy is a frequent comorbidity with a high incidence of spasms and drug resista …
Developmental delay degree was not statistically different among patients with or without seizures but feeding difficulties were more freque …
Genetic disorders associated with postnatal microcephaly.
Seltzer LE, Paciorkowski AR. Seltzer LE, et al. Am J Med Genet C Semin Med Genet. 2014 Jun;166C(2):140-55. doi: 10.1002/ajmg.c.31400. Epub 2014 May 16. Am J Med Genet C Semin Med Genet. 2014. PMID: 24839169 Review.
These disorders can be identified clinically by phenotyping across multiple neurodevelopmental and neurobehavioral realms, and enough data are available to recognize these postnatal microcephaly disorders as separate diagnostic entities in their own ri …
These disorders can be identified clinically by phenotyping across multiple neurodevelopmental and neurobehavioral realms, and …
Clinical and genetic profile of children with unexplained intellectual disability/developmental delay and epilepsy.
Nouri N, Bahreini A, Nasiri J, Salehi M. Nouri N, et al. Epilepsy Res. 2021 Nov;177:106782. doi: 10.1016/j.eplepsyres.2021.106782. Epub 2021 Oct 5. Epilepsy Res. 2021. PMID: 34695666
Variants in 28 genes have not been previously reported in Iranian patients with ID. Several additional phenotypes, mostly microcephaly, were common in 57.4 % of cases. Additionally, epilepsy was refractory in 40 % of patients. Three groups of brain anomalies …
Variants in 28 genes have not been previously reported in Iranian patients with ID. Several additional phenotypes, mostly microcephaly …
Brain white matter abnormalities associated with copy number variants.
Vigdorovich N, Ben-Sira L, Blumkin L, Precel R, Nezer I, Yosovich K, Cross Z, Vanderver A, Lev D, Lerman-Sagie T, Zerem A. Vigdorovich N, et al. Am J Med Genet A. 2020 Jan;182(1):93-103. doi: 10.1002/ajmg.a.61389. Epub 2019 Oct 17. Am J Med Genet A. 2020. PMID: 31622028
White matter (WM) signal abnormalities are demonstrated in various neurodevelopmental disorders on brain magnetic resonance imaging (MRI). ...This study aims to characterize the WM changes found in microdeletion/microduplication syndromes. Thirteen patients w …
White matter (WM) signal abnormalities are demonstrated in various neurodevelopmental disorders on brain magnetic reson …
Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome.
Salpietro V, Maroofian R, Zaki MS, Wangen J, Ciolfi A, Barresi S, Efthymiou S, Lamaze A, Aughey GN, Al Mutairi F, Rad A, Rocca C, Calì E, Accogli A, Zara F, Striano P, Mojarrad M, Tariq H, Giacopuzzi E, Taylor JC, Oprea G, Skrahina V, Rehman KU, Abd Elmaksoud M, Bassiony M, El Said HG, Abdel-Hamid MS, Al Shalan M, Seo G, Kim S, Lee H, Khang R, Issa MY, Elbendary HM, Rafat K, Marinakis NM, Traeger-Synodinos J, Ververi A, Sourmpi M, Eslahi A, Khadivi Zand F, Beiraghi Toosi M, Babaei M, Jackson A; SYNAPS Study Group; Bertoli-Avella A, Pagnamenta AT, Niceta M, Battini R, Corsello A, Leoni C, Chiarelli F, Dallapiccola B, Faqeih EA, Tallur KK, Alfadhel M, Alobeid E, Maddirevula S, Mankad K, Banka S, Ghayoor-Karimiani E, Tartaglia M, Chung WK, Green R, Alkuraya FS, Jepson JEC, Houlden H. Salpietro V, et al. Am J Hum Genet. 2024 Jan 4;111(1):200-210. doi: 10.1016/j.ajhg.2023.11.012. Epub 2023 Dec 20. Am J Hum Genet. 2024. PMID: 38118446 Free PMC article.
Pathogenic variants in GTPBP2 were recently shown to be an ultra-rare cause of neurodegenerative or neurodevelopmental disorders (NDDs). Until now, no human phenotype has been linked to GTPBP1. ...Abnormal vision and/or hearing, progressive spasticity, choreoathetoi …
Pathogenic variants in GTPBP2 were recently shown to be an ultra-rare cause of neurodegenerative or neurodevelopmental disorders …
KCNT1-related epilepsy: An international multicenter cohort of 27 pediatric cases.
Borlot F, Abushama A, Morrison-Levy N, Jain P, Puthenveettil Vinayan K, Abukhalid M, Aldhalaan HM, Almuzaini HS, Gulati S, Hershkovitz T, Konanki R, Lingappa L, Luat AF, Shafi S, Tabarki B, Thomas M, Yoganathan S, Alfadhel M, Arya R, Donner EJ, Ehaideb SN, Gowda VK, Jain V, Madaan P, Myers KA, Otsubo H, Panda P, Sahu JK, Sampaio LPB, Sharma S, Simard-Tremblay E, Zak M, Whitney R. Borlot F, et al. Epilepsia. 2020 Apr;61(4):679-692. doi: 10.1111/epi.16480. Epub 2020 Mar 13. Epilepsia. 2020. PMID: 32167590 Free article.
Sixty percent had abnormal magnetic resonance imaging (MRI) findings. Delayed myelination, thin corpus callosum, and brain atrophy were the most common. One child had gray-white matter interface indistinctness, suggesting a malformation of cortical development. ...F …
Sixty percent had abnormal magnetic resonance imaging (MRI) findings. Delayed myelination, thin corpus callosum, and brain atrophy …
De novo mutation screening in childhood-onset cerebellar atrophy identifies gain-of-function mutations in the CACNA1G calcium channel gene.
Chemin J, Siquier-Pernet K, Nicouleau M, Barcia G, Ahmad A, Medina-Cano D, Hanein S, Altin N, Hubert L, Bole-Feysot C, Fourage C, Nitschké P, Thevenon J, Rio M, Blanc P, Vidal C, Bahi-Buisson N, Desguerre I, Munnich A, Lyonnet S, Boddaert N, Fassi E, Shinawi M, Zimmerman H, Amiel J, Faivre L, Colleaux L, Lory P, Cantagrel V. Chemin J, et al. Brain. 2018 Jul 1;141(7):1998-2013. doi: 10.1093/brain/awy145. Brain. 2018. PMID: 29878067
In contrast, recent studies pinpoint the high prevalence of pathogenic de novo mutations in other developmental disorders such as intellectual disability, autism spectrum disorders and epilepsy. ...They all display severe motor and cognitive impairment, cereb …
In contrast, recent studies pinpoint the high prevalence of pathogenic de novo mutations in other developmental disorders such as int …
Profile of West syndrome in North Indian children.
Singhi P, Ray M. Singhi P, et al. Brain Dev. 2005 Mar;27(2):135-40. doi: 10.1016/j.braindev.2003.10.007. Brain Dev. 2005. PMID: 15668054
Computed tomography scan done in 94 cases showed cerebral atrophy in 15%, infarcts in 8%, tubers in 7%, developmental malformations in 5%. Magnetic resonance imaging done in 77 cases showed periventricular T2WI white matter hyper intensities in 33.8% and cerebral atroph …
Computed tomography scan done in 94 cases showed cerebral atrophy in 15%, infarcts in 8%, tubers in 7%, developmental malformations i …
Pontocerebellar hypoplasia type 6 caused by mutations in RARS2: definition of the clinical spectrum and molecular findings in five patients.
Cassandrini D, Cilio MR, Bianchi M, Doimo M, Balestri M, Tessa A, Rizza T, Sartori G, Meschini MC, Nesti C, Tozzi G, Petruzzella V, Piemonte F, Bisceglia L, Bruno C, Dionisi-Vici C, D'Amico A, Fattori F, Carrozzo R, Salviati L, Santorelli FM, Bertini E. Cassandrini D, et al. J Inherit Metab Dis. 2013 Jan;36(1):43-53. doi: 10.1007/s10545-012-9487-9. Epub 2012 May 8. J Inherit Metab Dis. 2013. PMID: 22569581
The long-term follow-up revealed a virtual absence of psychomotor development, progressive microcephaly, and feeding difficulties. Mitochondrial respiratory chain enzymes in muscle and fibroblasts were normal in two. ...Cerebellar vermis hypoplasia with normal aspect of th …
The long-term follow-up revealed a virtual absence of psychomotor development, progressive microcephaly, and feeding difficulties. Mi …
A novel form of pontocerebellar hypoplasia maps to chromosome 7q11-21.
Rajab A, Mochida GH, Hill A, Ganesh V, Bodell A, Riaz A, Grant PE, Shugart YY, Walsh CA. Rajab A, et al. Neurology. 2003 May 27;60(10):1664-7. doi: 10.1212/01.wnl.0000068548.58498.41. Neurology. 2003. PMID: 12771259
RESULTS: The clinical features of the affected children include developmental delay, progressive microcephaly with brachycephaly, seizures during the first year of life, hypotonia with hyperreflexia, short stature, and optic atrophy. ...CONCLUSIONS: This pedigree re …
RESULTS: The clinical features of the affected children include developmental delay, progressive microcephaly with brachycephaly, sei …