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Total 442 results found since Jan 2013.

De novo mutations in GRIN1 cause extensive bilateral polymicrogyria
AbstractSee Crino (doi:10.1093/brain/awy047) for a scientific commentary on this article.Polymicrogyria is a malformation of cortical development. The aetiology of polymicrogyria remains poorly understood. Using whole-exome sequencing we foundde novo heterozygous missenseGRIN1 mutations in 2 of 57 parent-offspring trios with polymicrogyria. We found nine furtherde novo missenseGRIN1 mutations in additional cortical malformation patients. Shared features in the patients were extensive bilateral polymicrogyria associated with severe developmental delay, postnatal microcephaly, cortical visual impairment and intractable epile...
Source: Brain - January 22, 2018 Category: Neurology Source Type: research

Characterizing White Matter Tract Organization in Polymicrogyria and Lissencephaly: A Multifiber Diffusion MRI Modeling and Tractography Study FUNCTIONAL
CONCLUSIONS: We demonstrated a range of white matter tract structural abnormalities in patients with polymicrogyria and lissencephaly. The patterns of white matter tract involvement are related to polymicrogyria and lissencephaly subgroups, distribution, and, possibly, their underlying etiologies.
Source: American Journal of Neuroradiology - August 11, 2020 Category: Radiology Authors: Arrigoni, F., Peruzzo, D., Mandelstam, S., Amorosino, G., Redaelli, D., Romaniello, R., Leventer, R., Borgatti, R., Seal, M., Yang, J. Y.- M. Tags: FUNCTIONAL Source Type: research

The syndrome of polymicrogyria, thalamic hypoplasia, and epilepsy with CSWS
Conclusions: The polymicrogyria/CSWS syndrome is likely caused by a cortico-thalamic malformation complex and is characterized by remission of epilepsy within early adolescence. Early assessment of hemispheric and thalamic volumes in children with polymicrogyria and epilepsy can reliably predict CSWS.
Source: Neurology - March 27, 2016 Category: Neurology Authors: Bartolini, E., Falchi, M., Zellini, F., Parrini, E., Grisotto, L., Cosottini, M., Posar, A., Parmeggiani, A., Ambrosetto, G., Ferrari, A. R., Santucci, M., Salas-Puig, J., Barba, C., Guerrini, R. Tags: All Pediatric, All Epilepsy/Seizures, EEG, Volumetric MRI use in epilepsy ARTICLE Source Type: research

Polymicrogyria with dysmorphic basal ganglia? Think tubulin!
This report underlines that the association of polymicrogyria with thin or absent corpus callosum, dysmorphic basal ganglia, brainstem and vermis hypoplasia is highly likely to result from mutations in TUBB2B and provides further insight in how mutations in TUBB2B affect protein function. PMID: 23495813 [PubMed - as supplied by publisher]
Source: Clinical Genetics - March 15, 2013 Category: Genetics & Stem Cells Authors: Amrom D, Tanyalçin I, Verhelst H, Deconinck N, Brouhard G, Décarie JC, Vanderhasselt T, Das S, Hamdan F, Lissens W, Michaud J, Jansen A Tags: Clin Genet Source Type: research

Ultra-High-Field MR Imaging in Polymicrogyria and Epilepsy BRAIN
CONCLUSIONS: 7T imaging reveals more anatomic details of polymicrogyria compared with 3T conventional sequences, with potential implications for diagnosis, genetic studies, and surgical treatment of associated epilepsy. Abnormalities of cortical veins may suggest a role for vascular dysgenesis in pathogenesis.
Source: American Journal of Neuroradiology - February 11, 2015 Category: Radiology Authors: De Ciantis, A., Barkovich, A. J., Cosottini, M., Barba, C., Montanaro, D., Costagli, M., Tosetti, M., Biagi, L., Dobyns, W. B., Guerrini, R. Tags: BRAIN Source Type: research

Increased Expression of GAP43 in Interneurons in a Rat Model of Experimental Polymicrogyria
To investigate seizure susceptibility in polymicrogyria, the seizure threshold and growth-associated protein GAP43 expression were analyzed in a rat experimental model of polymicrogyria induced by intracerebral injection of ibotenate. A total of 72 neonates from 9 pregnant rats were used. Intraperitoneal pentylenetetrazole injection did not induce any seizure activity in the control rats, although it elicited seizures of variable severity in the polymicrogyria rats. Fluoro-Jade B–positive degenerating interneurons were found in the polymicrogyria brains; however, no such neurons were detected in the control brains. I...
Source: Journal of Child Neurology - April 15, 2015 Category: Neurology Authors: Takano, T., Matsui, K. Tags: Original Articles Source Type: research

The Role of Diffusion-Weighted Imaging in the Evaluation of the Whole Brain in Isolated Unilateral Polymicrogyria
The aim is to evaluate normal-appearing brain regions in isolated unilateral polymicrogyria patients and compare them with controls by using diffusion-weighted imaging and apparent diffusion coefficient. The diffusion-weighted images (b = 0-1000 s/mm2) of 10 pediatric patients (7 boys, 3 girls; mean age = 5.8 ± 4.3 years) with isolated unilateral polymicrogyria and age-sex matched 10 control patients were assessed retrospectively. There was a significant increase in apparent diffusion coefficient values of white matter underlying polymicrogyria, uninvolved white matter, deep gray matter (thalami, lentiform nuclei, c...
Source: Journal of Child Neurology - November 7, 2016 Category: Neurology Authors: Görkem, S. B., Doganay, S., Gumus, K., Bayram, A., Kumandas, S., Coskun, A. Tags: Original Articles Source Type: research

Compound heterozygosity in GPR56 with bilateral frontoparietal polymicrogyria
Abstract: Polymicrogyria is caused by a diverse etiology, one of which is gene mutation. At present, only one gene (GPR56) is known to cause polymicrogyria, which leads to a distinctive phenotype termed bilateral frontoparietal polymicrogyria (BFPP). BFPP is an autosomal recessive inherited human brain malformation with abnormal cortical lamination. Here, we identified compound heterozygous GPR56 mutations in a patient with BFPP. The proband was a Japanese female born from non-consanguineous parents. She presented with mental retardation, developmental motor delay, epilepsy exhibiting the feature of Lennox–Gastaut syndro...
Source: Brain and Development - August 26, 2013 Category: Neurology Authors: Yuji Fujii, Nobutsune Ishikawa, Yoshiyuki Kobayashi, Masao Kobayashi, Mitsuhiro Kato Tags: Case Reports Source Type: research

Characterisation of mutations of the phosphoinositide-3-kinase regulatory subunit, PIK3R2, in perisylvian polymicrogyria: a next-generation sequencing study
Publication date: Available online 29 October 2015 Source:The Lancet Neurology Author(s): Ghayda M Mirzaa, Valerio Conti, Andrew E Timms, Christopher D Smyser, Sarah Ahmed, Melissa Carter, Sarah Barnett, Robert B Hufnagel, Amy Goldstein, Yoko Narumi-Kishimoto, Carissa Olds, Sarah Collins, Kathreen Johnston, Jean-François Deleuze, Patrick Nitschké, Kathryn Friend, Catharine Harris, Allison Goetsch, Beth Martin, Evan August Boyle, Elena Parrini, Davide Mei, Lorenzo Tattini, Anne Slavotinek, Ed Blair, Christopher Barnett, Jay Shendure, Jamel Chelly, William B Dobyns, Renzo Guerrini Background...
Source: The Lancet Neurology - October 30, 2015 Category: Neurology Source Type: research

Assessing Corticospinal Tract Asymmetry in Unilateral Polymicrogyria PEDIATRICS
CONCLUSIONS: Visual assessment of corticospinal tract asymmetry in unilateral polymicrogyria involving the motor cortex is most reliable with T1WI and color-coded DTI maps at the level of the midbrain. Pronounced asymmetry predicts preserved motor function after hemispherectomy. DTI-based tractography can be used as a guidance tool to the motor cortex within polymicrogyria.
Source: American Journal of Neuroradiology - August 14, 2018 Category: Radiology Authors: Foesleitner, O., Nenning, K.- H., Traub-Weidinger, T., Feucht, M., Bonelli, S., Czech, T., Dorfer, C., Prayer, D., Kasprian, G. Tags: PEDIATRICS Source Type: research

Polymicrogyria associated with 17p13.3p13.2 duplication: Case report and review of the literature.
We present the case of a male infant with bilateral perisylvian polymicrogyria associated with a de novo duplication of chromosome region 17p13.3p13.2. To our knowledge, this is the first report of polymicrogyria associated with the 17p13.3 contiguous gene duplication syndrome. Testing for known monogenic causes of polymicrogyria was negative and there was no clinical evidence of an acquired prenatal cause. Given the critical, dose-sensitive role that the 17p13.3 region plays in brain development we suggest that the chromosome duplication is the most likely explanation for the polymicrogyria. Clinical and functional studie...
Source: European Journal of Medical Genetics - September 30, 2019 Category: Genetics & Stem Cells Authors: Stutterd CA, Francis D, McGillivray G, Lockhart PJ, Leventer RJ Tags: Eur J Med Genet Source Type: research

ATP1A2- and ATP1A3-associated early profound epileptic encephalopathy and polymicrogyria
AbstractConstitutional heterozygous mutations ofATP1A2 andATP1A3, encoding for two distinct isoforms of the Na+/K+-ATPase (NKA) alpha-subunit, have been associated with familial hemiplegic migraine (ATP1A2), alternating hemiplegia of childhood (ATP1A2/A3), rapid-onset dystonia-parkinsonism, cerebellar ataxia-areflexia-progressive optic atrophy, and relapsing encephalopathy with cerebellar ataxia (allATP1A3). A few reports have described single individuals with heterozygous mutations ofATP1A2/A3 associated with severe childhood epilepsies. Early lethal hydrops fetalis, arthrogryposis, microcephaly, and polymicrogyria have b...
Source: Brain - May 10, 2021 Category: Neurology Source Type: research

Genes, Vol. 14, Pages 108: A De Novo Missense Variant in TUBG2 in a Child with Global Developmental Delay, Microcephaly, Refractory Epilepsy and Perisylvian Polymicrogyria
. Kernohan Polymicrogyria is a brain malformation characterized by excessive folding of the cortex. To date, numerous causes of polymicrogyria have been identified, including variants in the genes associated with tubulinopathies. Herein, we present a child with severe intellectual disability, refractory to treatment seizures, microcephaly and MRI findings consistent with polymicrogyria, closed-lip schizencephaly, periventricular heterotopia and a dysplastic corpus callosum. Exome sequencing identified a de novo missense variant in TUBG2, a gene not associated with human disease. The variant, NM_016437.3 c.747G&...
Source: Genes - December 29, 2022 Category: Genetics & Stem Cells Authors: Salini Thulasirajah Xueqi Wang Erick Sell Jorge D ávila David A. Dyment Kristin D. Kernohan Tags: Case Report Source Type: research

GPR56 homozygous nonsense mutation p.R271* associated with phenotypic variability in bilateral frontoparietal polymicrogyria.
Abstract Öncü-Öner T, Ünalp A, Porsuk-Doru İ, Ağılkaya S, Güleryüz H, Saraç A, Ergüner B, Yüksel B, Hız-Kurul S, Cingöz S. GPR56 homozygous nonsense mutation p.R271* associated with phenotypic variability in bilateral frontoparietal polymicrogyria. Turk J Pediatr 2018; 60: 229-237. Polymicrogyria is a disorder of neuronal migration characterized by excessive cortical folding and partially fused gyri separated by shallow sulci. Homozygous mutations in the GPR56 gene, which regulates migration of neural precursor cells, are associated with bilateral frontoparietal polymicrogyria (BFPP) syndrome includi...
Source: The Turkish Journal of Pediatrics - December 5, 2018 Category: Pediatrics Authors: Öncü-Öner T, Ünalp A, Porsuk-Doru İ, Ağılkaya S, Güleryüz H, Saraç A, Ergüner B, Yüksel B, Hız-Kurul S, Cingöz S Tags: Turk J Pediatr Source Type: research

Megalencephaly, polymicrogyria and ribbon-like band heterotopia: A new cortical malformation
Megalencephalic polymicrogyria syndromes include megalencephaly-capillary malformation and megalencephaly-polymicrogyria-polydactyly-hydrocephalus. Recent genetic studies have identified that genes in the PI3K-AKT pathway are involved in the pathogenesis of these disorders. Herein, we report a patient who presented with developmental delay, epilepsy and peculiar neuroimaging findings of megalencephaly, polymicrogyria, and symmetrical band heterotopia in the periventricular region. The heterotopias exhibited inhomogeneous signals with undulatory mixtures of gray and white matter, resembling ribbon-like heterotopia, with a p...
Source: Brain and Development - July 2, 2016 Category: Neurology Authors: Yu Kobayashi, Shinichi Magara, Kenichi Okazaki, Takao Komatsubara, Hirotomo Saitsu, Naomichi Matsumoto, Mitsuhiro Kato, Jun Tohyama Tags: Case Report Source Type: research