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Total 442 results found since Jan 2013.

Central Sulcus Misfolding: Polarity Reversal of SSEP N20 Potential in "layered" Polymicrogyria.
Authors: Hale T, Knecht A, Barbarevech K, Yue Q Abstract Paradoxical cortical potential polarity of the upper extremity somatosensory evoked potential (SSEP) has been reported in cases of polymicrogyria (PMG) syndrome. To date, the pathophysiological basis of this electrophysiological aberration remains under investigation. Here we present a case of mild PMG that showed "layered" microgyri in the left frontoparietal cortices affecting both hand and foot sensorimotor areas. The SSEP recordings revealed an isolated polarity reversal of N20 from the dysplastic cortex. We postulate a central sulcus misfolding theory to...
Source: The Neurodiagnostic Journal - September 7, 2019 Category: Neurology Tags: Neurodiagn J Source Type: research

Parasagittal Hemispherotomy in hemispheric Polymicrogyria with electrical status epilepticus during slow sleep: Indications, Results and Follow-up
ConclusionHemispherotomy can be helpful in patients with drug-resistant ESESS and hemispheric PMG while keeping in mind that more often an accurate medical treatment can be sufficient. The main benefit of surgery is to definitively stop the seizures and to withdraw the medical treatment while keeping in mind the risk of motor aggravation.
Source: Seizure - July 24, 2019 Category: Neurology Source Type: research

SCN2A mutation in an infant with Ohtahara syndrome and neuroimaging findings: expanding the phenotype of neuronal migration disorders.
Abstract Neuronal migration disorders (NMDs) are a heterogeneous group of conditions caused by the abnormal migration of neuroblasts in the developing brain and nervous system, resulting in severe developmental impairment, intractable epilepsy and intellectual disability (Spalice et al. 2009). To date, many genes have been identified as the leading cause of migration defects, i.e. agyria/pachygyria, polymicrogyria, heterotopias, agenesis of the corpus callosum and agenesis of the cranial nerves (Spalice et al. 2009). Here, we present a patient with early infantile epileptic encephalopathy (Ohtahara syndrome) with ...
Source: Journal of Genetics - May 31, 2019 Category: Genetics & Stem Cells Authors: Vlachou V, Larsen L, Pavlidou E, Ismayilova N, Mazarakis ND, Scala M, Pantazi M, Mankad K, Kinali M Tags: J Genet Source Type: research

Schizencephaly accompanied by occipital encephalocele and deletion of chromosome 22q13.32: a case report.
Conclusions: Schizencephaly may be accompanied by unexpected structural and genetic anomalies as in our case with occipital encephalocele, dysmorphic facies, cardiac ventricular septal defect and chromosome 22q13.32 deletion. PMID: 31130048 [PubMed - as supplied by publisher]
Source: Fetal and Pediatric Pathology - May 28, 2019 Category: Pathology Tags: Fetal Pediatr Pathol Source Type: research

Abnormal circadian rhythm in patients with GRIN1-related developmental epileptic encephalopathy.
Abstract GRIN1 encodes the obligate subunit (GluN1) of glutamate N-methyl-d-aspartate receptor (NMDAr). Pathogenic variants in GRIN1 are a well-known cause of infantile encephalopathy characterized by profound developmental delay (DD), variable epileptic phenotypes, and distinctive behavioral abnormalities. Recently, GRIN1 has also been implicated in the pathogenesis of polymicrogyria (PMG). We investigated two patients presenting with severe intellectual disability (ID), epilepsy, stereotyped movements, and abnormal ocular movements. They showed distinctive circadian rhythm alterations and sleep-wake patterns ano...
Source: European Journal of Paediatric Neurology - May 23, 2019 Category: Neurology Authors: Scala M, Amadori E, Fusco L, Marchese F, Capra V, Minetti C, Vari MS, Striano P Tags: Eur J Paediatr Neurol Source Type: research

Severe presentation and complex brain malformations in an individual carrying a CCND2 variant
ConclusionThis report expands the phenotypic spectrum of the disorder due toCCND2 variants.
Source: Molecular Genetics & Genomic Medicine - May 5, 2019 Category: Genetics & Stem Cells Authors: Gerarda Cappuccio, Lorenzo Ugga, Elena Parrini, Alessandra D ’Amico, Nicola Brunetti‐Pierri Tags: ORIGINAL ARTICLE Source Type: research

Reelin: Diverse roles in central nervous system development, health and disease.
Abstract Over the past 20 years the structure and function of Reelin, an extracellular glycoprotein with a role in cell migration and positioning during development has been elucidated. Originally discovered in mice exhibiting a peculiar gait and hypoplastic cerebellar tissue, Reelin is secreted from Cajal-Retzius neurons during embryonic life and has been shown to act as a stop signal, guiding migrating radial neurons in a gradient-dependent manner. Reelin carries out its function by binding to the receptors, very low-density lipoprotein receptor (VLDLR) and apolipoprotein E receptor 2 (ApoER2) resulting in the p...
Source: The International Journal of Biochemistry and Cell Biology - April 21, 2019 Category: Biochemistry Authors: Armstrong NC, Anderson RC, McDermott KW Tags: Int J Biochem Cell Biol Source Type: research

Parents' heartbreak after their two sons die within the space of a month
Charlie Corcoran and his brother, Noah, died within 23 days of each other last year after being born with the condition polymicrogyria, which causes the brain to develop abnormally.
Source: the Mail online | Health - April 16, 2019 Category: Consumer Health News Source Type: news

Overlap of polymicrogyria, hydrocephalus, and Joubert syndrome in a family with novel truncating mutations in ADGRG1/GPR56 and KIAA0556
This study shows how two independent mutations can interact leading to complex brain malformations.
Source: Neurogenetics - April 12, 2019 Category: Genetics & Stem Cells Source Type: research

Comparative Analysis for the Performance of Variant Calling Pipelines on Detecting the de novo Mutations in Humans
Conclusion In this study, we demonstrated that different pipelines have a specific tendency to detect the DNSNVs in the genomic regions with different GC contents. GATK performed better on detecting the DNSNVs in the low GC-content region while RTG and VarScan are better suited for detecting the DNSNVs in the high GC-content region. To refine the calling results for single pipeline, the read coverage at the mutation positions of the son’s genome and the parents’ genomes can be considered as an effective index to identify DNSNVs with high confidence. Our findings would be useful for the community to choose th...
Source: Frontiers in Pharmacology - April 10, 2019 Category: Drugs & Pharmacology Source Type: research

Amniotic Bands and associated Polymicrogyria: In Favor of a unique Ischemic Cause
Publication date: Available online 20 March 2019Source: European Journal of Obstetrics & Gynecology and Reproductive BiologyAuthor(s): Florence Feucht
Source: European Journal of Obstetrics and Gynecology and Reproductive Biology - March 21, 2019 Category: OBGYN Source Type: research

Cortical malformations and COL4A1 mutation: Three new cases.
Abstract AIM: The COL4A1 gene (13q34) encodes the α1 chain of type IV collagen, a crucial component of the basal membrane. COL4A1 mutations have been identified as a cause of a multisystem disease. Brain MRI in COL4A1-mutated patients typically shows vascular abnormalities and white matter lesions. Cortical malformations (specifically schizencephaly) have also recently been described in these patients, suggesting that these, too, could be part of the phenotypic spectrum of COL4A1 mutations. The aim of our work was to retrospectively evaluate COL4A1-mutated subjects diagnosed at our centers in order to assess the ...
Source: European Journal of Paediatric Neurology - February 21, 2019 Category: Neurology Authors: Vitale G, Pichiecchio A, Ormitti F, Tonduti D, Asaro A, Farina L, Piccolo B, Percesepe A, Bastianello S, Orcesi S, COL4A1 International Study Group Tags: Eur J Paediatr Neurol Source Type: research

Prevalence of neuropsychiatric symptoms associated with malformations of cortical development
ConclusionsNeuropsychiatric symptoms are commonly associated with MCD, but psychiatric disorders may be underrecognized given that only half of the patients with psychiatric symptoms were referred for a specialized consultation. The presence of intellectual disability and family psychiatric history may help identify and predict risk of psychiatric manifestations in MCD.
Source: Epilepsy and Behavior - February 13, 2019 Category: Neurology Source Type: research