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Total 442 results found since Jan 2013.

Congenital CMV infection presenting with massive intracerebral hemorrhage
CONCLUSION: Catastrophic intracerebral hemorrhage has not been previously reported in association with congenital CMV infection. The present case expands the range of potential injuries to the developing brain in congenital CMV infection and raises the possibility of a direct vascular injury.PMID:34308832 | DOI:10.5414/NP301341
Source: Clinical Neuropathology - July 26, 2021 Category: Pathology Authors: Barbra de Vrijer Diana Crowley Delaney Cosma Giulio Muscedere Robert Hammond Source Type: research

Variants in LAMC3 Causes Occipital Cortical Malformation
Occipital cortical malformation (OCCM) is a disease caused by malformations of cortical development characterized by polymicrogyria and pachygyria of the occipital lobes and childhood-onset seizures. The recessive or complex heterozygous variants of the LAMC3 gene are identified as the cause of OCCM. In the present study, we identified novel complex heterozygous variants (c.470G > A and c.4030 + 1G > A) of the LAMC3 gene in a Chinese female with childhood-onset seizures. Cranial magnetic resonance imaging was normal. Functional experiments confirmed that both variant sites caused premature truncation of the laminin Î...
Source: Frontiers in Genetics - July 20, 2021 Category: Genetics & Stem Cells Source Type: research

Progressive cerebral atrophies in three children with COL4A1 mutations
The collagen type IV alpha 1 chain (COL4A1) gene on 13q34 encodes one chain of collagen. COL4A1 mutations have been identified as the cause of a group of multisystemic conditions in humans, including the brain, eyes, kidneys, muscles, and other organs at any age. Brain imaging shows a wide spectrum of abnormalities, including porencephaly, schizencephaly, polymicrogyria focal cortical dysplasia, periventricular leukoencephalopathy, ventricular dysmorphisms, and multiple brain calcifications. However, there are no reports in the literature showing progressive radiological findings in consecutive follow-up scans.
Source: Brain and Development - July 16, 2021 Category: Neurology Authors: Yuko Nakamura, Tohru Okanishi, Hiroyuki Yamada, Tetsuya Okazaki, Chika Hosoda, Toshiyuki Itai, Satoko Miyatake, Hirotomo Saitsu, Naomichi Matsumoto, Yoshihiro Maegaki Tags: Case Report Source Type: research

Early role for a Na+,K+-ATPase (ATP1A3) in brain development Genetics
Osmotic equilibrium and membrane potential in animal cells depend on concentration gradients of sodium (Na+) and potassium (K+) ions across the plasma membrane, a function catalyzed by the Na+,K+-ATPase α-subunit. Here, we describe ATP1A3 variants encoding dysfunctional α3-subunits in children affected by polymicrogyria, a developmental malformation of the cerebral cortex...
Source: Proceedings of the National Academy of Sciences - June 14, 2021 Category: Science Authors: Richard S. Smith, Marta Florio, Shyam K. Akula, Jennifer E. Neil, Yidi Wang, R. Sean Hill, Melissa Goldman, Christopher D. Mullally, Nora Reed, Luis Bello-Espinosa, Laura Flores-Sarnat, Fabiola Paoli Monteiro, Casella B. Erasmo, Filippo Pinto e Vairo, Eva Tags: Genetics Biological Sciences Source Type: research

Symptomatic eating epilepsy: two novel pediatric patients and review of literature
We describe two patients with symptomatic eating epilepsy, a 13-year-old boy with a bilateral perisylvian polymicrogyria and a 2-year-old boy with a genetic cause. The presence of structural lesions or the dysfunction of specific cortical regions in the context of a germline genetic alteration might lead to a hyperexcitation fostering the epileptogenesis. We review the available literature to clarify the aetiopathogenesis and the mechanisms underlying EE to improve the diagnosis and the management of these rare conditions.
Source: Italian Journal of Pediatrics - June 12, 2021 Category: Pediatrics Source Type: research

Ganglionic Eminence Anomalies and Coexisting Cerebral Developmental Anomalies on Fetal MR Imaging: Multicenter-Based Review of 60 Cases PEDIATRICS
CONCLUSIONS: Ganglionic eminence anomalies are associated with specific neurodevelopmental anomalies with ganglionic eminence cavitations and increased ganglionic eminence volume apparently having different associated abnormalities.
Source: American Journal of Neuroradiology - June 10, 2021 Category: Radiology Authors: Scarabello, M., Righini, A., Severino, M., Pinelli, L., Parazzini, C., Scola, E., Palumbo, G., Di Maurizio, M., D'Errico, I., Rossi, A., Triulzi, F., Griffiths, P. D. Tags: PEDIATRICS Source Type: research

Admixed phenotype of NEDD4L associated periventricular nodular heterotopia: A case report
We report the case of a polystigmatized 2-year-old boy having significant symptomatologic overlap with PVNH7, such as delayed psychomotor and mental development, seizures and infantile spasms, periventricular nodular heterotopia, polymicrogyria, cleft palate, 2 to 3 toe syndactyly, hypotonia, microretrognathia, strabismus, and absent speech and walking. The patient showed also distinct symptoms falling outside PVNH7 symptomatology, also present in the proband's older brother, such as blue sclerae, hydronephrosis, transversal palmar crease (found also in their father), and bilateral talipes equinovarus. In addition, the pat...
Source: Medicine - June 4, 2021 Category: Internal Medicine Tags: Research Article: Clinical Case Report Source Type: research

Interictal Epileptiform Discharge Dynamics in Peri-sylvian Polymicrogyria Using EEG-fMRI
Polymicrogyria (PMG) is a common malformation of cortical development associated with a higher susceptibility to epileptic seizures. Seizures secondary to PMG are characterized by difficult-to-localize cerebral sources due to the complex and widespread lesion structure. Tracing the dynamics of interictal epileptiform discharges (IEDs) in patients with epilepsy has been shown to reveal the location of epileptic activity sources, crucial for successful treatment in cases of focal drug-resistant epilepsy. In this case series IED dynamics were evaluated with simultaneous EEG-fMRI recordings in four patients with unilateral per...
Source: Frontiers in Neurology - June 3, 2021 Category: Neurology Source Type: research

Unilateral polymicrogyria, hemispheric atrophy and spastic hemiparesis: rare etiologies for a common condition
Source: Acta Neurologica Belgica - May 29, 2021 Category: Neurology 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

Identification of Rpd3 as a novel epigenetic regulator of Drosophila FIG 4, a Charcot-Marie-Tooth disease-causing gene
Mutations in the factor-induced-gene 4 (FIG 4) gene are associated with multiple disorders, including Charcot-Marie-Tooth disease (CMT), epilepsy with polymicrogyria, Yunis–Varón syndrome and amyotrophic lateral sclerosis. The wide spectrum of disorders associated with FIG 4 may be related to the dysregulated epigenetics. Using Gene Expression Omnibus, we found that HDAC1 binds to the FIG 4 gene locus in the genome of human CD4+ T cells. Rpd3 is a well-known Drosophila homolog of human HDAC1. We previously established Drosophila models targeting Drosophila FIG 4 (dFIG 4) that exhibited defective locomotive ability, abno...
Source: NeuroReport - April 21, 2021 Category: Neurology Tags: Cellular, Molecular and Developmental Neuroscience Source Type: research

GSE164360 Epigenomic Activation of Enhancers in Granule Cell Precursors by CHARGE Syndrome Protein CHD7 Regulates Gyrification of the Mammalian Cerebellum
Contributors : Naveen C Reddy ; Shahriyar P Majidi ; Lingchun Kong ; Mati Nemera ; Cole J Ferguson ; Michael Moore ; Tassia M Goncalves ; Hai-Kun Liu ; James A Fitzpatrick ; Guoyan Zhao ; Tomoko Yamada ; Harrison W Gabel ; Azad BonniSeries Type : Expression profiling by high throughput sequencing ; Genome binding/occupancy profiling by high throughput sequencingOrganism : Homo sapiens ; Mus musculusRegulation of chromatin plays fundamental roles in the normal development of the brain. Haploinsufficiency of the chromatin remodeling enzyme CHD7 causes CHARGE syndrome, a genetic disorder that prominently affects the developme...
Source: GEO: Gene Expression Omnibus - April 7, 2021 Category: Genetics & Stem Cells Tags: Expression profiling by high throughput sequencing Genome binding/occupancy profiling by high throughput sequencing Homo sapiens Mus musculus Source Type: research

Knobloch Syndrome, a Rare Cause of Occipital Encephalocele and Seizures: A Case Report
Conclusions: This case highlights the importance of consideration of this syndrome in children with a midline occipital bone defect with or without encephalocele and seizures. Early recognition of this presentation is critical for obtaining access to appropriate genetic counseling and subsequent monitoring and prevention of complications by surgical intervention.Pediatr Neurosurg
Source: Pediatric Neurosurgery - March 31, 2021 Category: Neurosurgery Source Type: research