This page shows you your search results in order of date. This is page number 2.
Order by Relevance | Date
Total 442 results found since Jan 2013.
Genetic analysis of periventricular nodular heterotopia 7 caused by a novel NEDD4L missense mutation: Case and literature summary
CONCLUSION: Functional experiments demonstrated that Gln900Arg probably did not lead to transcriptional abnormalities in this patient, instead leading to increased ubiquitination activity owing to the constitutive activation of the HECT domain, thereby promoting protein degradation. Extensive clinical reports should be generated for patients presenting with PVNH and/or polymicrogyria, developmental delay, syndactyly, and hypotonia to increase the pool of evidence related to NEDD4L.PMID:36934385 | DOI:10.1002/mgg3.2169
Source: Molecular Medicine - March 19, 2023 Category: Molecular Biology Authors: Juan Liu Jihong Hu Yaqing Duan Rong Qin Chunguang Guo Hongtao Zhou Hua Liu Chunlei Liu Source Type: research
Unilateral perirolandic polymicrogyria with ipsilateral brainstem hypoplasia and compensatory contralateral hyperplasia
We report a case of a 71-year-old man with right perirolandic PMG with ipsilateral hypoplasia and contralateral hyperplasia of the brainstem, with only non-progressive left-s ided mild spastic hemiparesis. This imaging pattern is thought to occur due to the normal process of withdrawal of the axons of the corticospinal tract (CST) connected to aberrant cortex, possibly with compensatory contralateral CST hyperplasia. However, the majority of cases is additionally present with epilepsy. We believe it is worthwhile to investigate imaging patterns of PMG with symptoms’ correlation, particularly with the help of techniques s...
Source: Neurological Sciences - March 2, 2023 Category: Neurology Source Type: research
A case of Aicardi syndrome associated with duplication event of Xp22 including < em > SHOX < /em >
CONCLUSIONS: Aicardi syndrome, albeit a rare condition, should always be considered in the differential diagnosis when investigating a female child with refractory seizures in early childhood. Genetic testing may help further our understanding of AIS and the search for a genetic etiology.PMID:36728747 | DOI:10.1080/13816810.2023.2172190
Source: Ophthalmic Genetics - February 2, 2023 Category: Opthalmology Authors: Leyla Yavuz Saricay Sandra Hoyek Ayush Ashit Parikh Grace Baldwin Olaf A Bodamer Efren Gonzalez Nimesh A Patel Source Type: research
Case report: LAMC3-associated cortical malformations: Case report of a novel stop-gain variant and literature review
Conclusion: Our case report confirms that variants of a gene known to be related to specific clinical and neuroradiological pictures can unexpectedly lead to new phenotypes involving different areas of the brain.
Source: Frontiers in Genetics - January 6, 2023 Category: Genetics & Stem Cells 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
Schizencephaly in Hereditary Hemorrhagic Telangiectasia ADULT BRAIN
CONCLUSIONS:
To our knowledge, we are the first group to report the presence of schizencephaly in patients with hereditary hemorrhagic telangiectasia. The presence of schizencephaly and porencephaly lends support to the hypothesis of regional in utero cerebral hypoxic events as the etiology of malformations of cortical development in hereditary hemorrhagic telangiectasia.
Source: American Journal of Neuroradiology - November 7, 2022 Category: Radiology Authors: Gaines, J. J., Gilbert, B. C., Gossage, J. R., Parker, W., Reddy, A., Forseen, S. E. Tags: ADULT BRAIN Source Type: research
Distinctive Brain Malformations in Zhu-Tokita-Takenouchi-Kim Syndrome PEDIATRICS
CONCLUSIONS:
The recurrent neuroradiologic changes identified here represent an opportunity to guide diagnostic formulation of Zhu-Tokita-Takenouchi-Kim syndrome on the basis of brain MR imaging evaluation.
Source: American Journal of Neuroradiology - November 7, 2022 Category: Radiology Authors: Halliday, B. J., Baynam, G., Ewans, L., Greenhalgh, L., Leventer, R. J., Pilz, D. T., Sachdev, R., Scheffer, I. E., Markie, D. M., McGillivray, G., Robertson, S. P., Mandelstam, S. Tags: PEDIATRICS Source Type: research
Interictal and seizure-onset EEG patterns in malformations of cortical development: A systematic review
Neurobiol Dis. 2022 Sep 19;174:105863. doi: 10.1016/j.nbd.2022.105863. Online ahead of print.ABSTRACTOBJECTIVES: Malformations of cortical development (MCDs) are common causes of drug-resistant epilepsy. The mechanisms underlying the associated epileptogenesis and ictogenesis remain poorly elucidated. EEG can help in understanding these mechanisms. We systematically reviewed studies reporting scalp or intracranial EEG features of MCDs to characterise interictal and seizure-onset EEG patterns across different MCD types.METHODS: We conducted a systematic review in accordance with PRISMA guidelines. MEDLINE, PubMed, and Cochr...
Source: Neurobiology of Disease - September 27, 2022 Category: Neurology Authors: Lubna Shakhatreh Mubeen Janmohamed Ana Antonic Baker Anna Willard Joshua Laing Maria Rychkova Zhibin Chen Patrick Kwan Terence J O'Brien Piero Perucca Source Type: research
