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62 results

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Page 1
Speech and language in bilateral perisylvian polymicrogyria: a systematic review.
Braden RO, Leventer RJ, Jansen A, Scheffer IE, Morgan AT. Braden RO, et al. Dev Med Child Neurol. 2019 Oct;61(10):1145-1152. doi: 10.1111/dmcn.14153. Epub 2019 Jan 25. Dev Med Child Neurol. 2019. PMID: 30680716 Free article.
AIM: We aimed to systematically review the speech production, language, and oral function phenotype of bilateral perisylvian polymicrogyria (BPP), and examine the correlation between the topography of polymicrogyria and the severity of speech, language, and oral fun …
AIM: We aimed to systematically review the speech production, language, and oral function phenotype of bilateral perisylvian polym …
Diffuse malformations of cortical development.
Bahi-Buisson N, Guerrini R. Bahi-Buisson N, et al. Handb Clin Neurol. 2013;111:653-65. doi: 10.1016/B978-0-444-52891-9.00068-3. Handb Clin Neurol. 2013. PMID: 23622213 Review.
Among several syndromes, recessive bilateral fronto-parietal polymicrogyria has been associated with mutations of the GPR56 gene. Bilateral perisylvian polymicrogyria has been associated with mutations in the SRPX2 gene in a few individuals and with linkage to chrom …
Among several syndromes, recessive bilateral fronto-parietal polymicrogyria has been associated with mutations of the GPR56 gene. Bilateral …
Diverse genetic causes of polymicrogyria with epilepsy.
Epilepsy Phenome/Genome Project, Epi4K Consortium. Epilepsy Phenome/Genome Project, Epi4K Consortium. Epilepsia. 2021 Apr;62(4):973-983. doi: 10.1111/epi.16854. Epub 2021 Apr 5. Epilepsia. 2021. PMID: 33818783 Free PMC article.
SIGNIFICANCE: This study confirms germline and postzygotically acquired de novo variants in PIK3R2 as an important cause of bilateral perisylvian polymicrogyria, notably with macrocephaly. In total, trio-based WES identified a genetic diagnosis in 12% and a candidat …
SIGNIFICANCE: This study confirms germline and postzygotically acquired de novo variants in PIK3R2 as an important cause of bilateral per …
Epilepsy phenotypes associated with MAP1B-related brain malformations.
Arya R, Spaeth C, Zhang W. Arya R, et al. Epileptic Disord. 2021 Apr 1;23(2):392-396. doi: 10.1684/epd.2021.1258. Epileptic Disord. 2021. PMID: 33772511
Neuroimaging showed PVH, corpus callosum abnormalities, and perisylvian polymicrogyria. A novel heterozygous frameshift variant in MAP1B was found in all affected family members. ...
Neuroimaging showed PVH, corpus callosum abnormalities, and perisylvian polymicrogyria. A novel heterozygous frameshift varian …
X-linked malformations of cortical development.
Leventer RJ, Mills PL, Dobyns WB. Leventer RJ, et al. Am J Med Genet. 2000 Fall;97(3):213-20. doi: 10.1002/1096-8628(200023)97:3<213::AID-AJMG1039>3.0.CO;2-W. Am J Med Genet. 2000. PMID: 11449490 Review.
This review will discuss four cortical malformation syndromes, which are known or likely to have an X-linked inheritance pattern: bilateral periventricular nodular heterotopia, X-linked lissencephaly/subcortical band heterotopia, X-linked lissencephaly with abnormal genitalia, an …
This review will discuss four cortical malformation syndromes, which are known or likely to have an X-linked inheritance pattern: bilateral …
Bilateral polymicrogyria associated with dystonia: A new neurogenetic syndrome?
Andelman-Gur MM, Leventer RJ, Hujirat M, Ganos C, Yosovich K, Carmi N, Lev D, Nissenkorn A, Dobyns WB, Bhatia K, Lerman-Sagie T, Blumkin L. Andelman-Gur MM, et al. Am J Med Genet A. 2020 Oct;182(10):2207-2213. doi: 10.1002/ajmg.a.61795. Epub 2020 Aug 17. Am J Med Genet A. 2020. PMID: 33001581
The clinical presentation of bilateral perisylvian polymicrogyria (PMG) is highly variable, including oromotor dysfunction, epilepsy, intellectual disability, and pyramidal signs. ...
The clinical presentation of bilateral perisylvian polymicrogyria (PMG) is highly variable, including oromotor dysfunction, ep …
Ultra-high-field MR imaging in polymicrogyria and epilepsy.
De Ciantis A, Barkovich AJ, Cosottini M, Barba C, Montanaro D, Costagli M, Tosetti M, Biagi L, Dobyns WB, Guerrini R. De Ciantis A, et al. AJNR Am J Neuroradiol. 2015 Feb;36(2):309-16. doi: 10.3174/ajnr.A4116. Epub 2014 Sep 25. AJNR Am J Neuroradiol. 2015. PMID: 25258368 Free PMC article.
Minimum intensity projections were used to assess the potential of the susceptibility-weighted angiography sequence for depiction of cerebral veins. RESULTS: At 7T, we observed perisylvian polymicrogyria that was bilateral in 6 patients, unilateral in 3, and diffuse …
Minimum intensity projections were used to assess the potential of the susceptibility-weighted angiography sequence for depiction of cerebra …
Neuronal migration disorders: clinical, neuroradiologic and genetics aspects.
Spalice A, Parisi P, Nicita F, Pizzardi G, Del Balzo F, Iannetti P. Spalice A, et al. Acta Paediatr. 2009 Mar;98(3):421-33. doi: 10.1111/j.1651-2227.2008.01160.x. Epub 2008 Dec 16. Acta Paediatr. 2009. PMID: 19120042 Review.
Polymicrogyria is described as an augmentation of small circonvolutions separated by shallow enlarged sulci; bilateral frontoparietal form is characterized by bilateral, symmetric polymicrogyria in the frontoparietal regions. Bilateral perisylvian polymicrogyria res …
Polymicrogyria is described as an augmentation of small circonvolutions separated by shallow enlarged sulci; bilateral frontoparietal form i …
Familial and genetic associations in Worster-Drought syndrome and perisylvian disorders.
Clark M, Neville BG. Clark M, et al. Am J Med Genet A. 2008 Jan 1;146A(1):35-42. doi: 10.1002/ajmg.a.32015. Am J Med Genet A. 2008. PMID: 17994559
The phenotype is identical to that described in congenital bilateral perisylvian polymicrogyria syndrome (CBPS) and appears to have several different causes and a significant familial incidence. ...There are grounds for considering WDS and perisylvian poly …
The phenotype is identical to that described in congenital bilateral perisylvian polymicrogyria syndrome (CBPS) and appears to …
Polymicrogyria associated with 17p13.3p13.2 duplication: Case report and review of the literature.
Stutterd CA, Francis D, McGillivray G, Lockhart PJ, Leventer RJ. Stutterd CA, et al. Eur J Med Genet. 2020 Apr;63(4):103774. doi: 10.1016/j.ejmg.2019.103774. Epub 2019 Oct 1. Eur J Med Genet. 2020. PMID: 31585183 Review.
We present the case of a male infant with bilateral perisylvian polymicrogyria associated with a de novo duplication of chromosome region 17p13.3p13.2. ...
We present the case of a male infant with bilateral perisylvian polymicrogyria associated with a de novo duplication of chromo …
62 results