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Total 482 results found since Jan 2013.

Neurosonographic and MRI diagnosis of fetal cerebral lesions heralding polymicrogyria
Ultrasound Obstet Gynecol. 2023 Sep 6. doi: 10.1002/uog.27460. Online ahead of print.NO ABSTRACTPMID:37671454 | DOI:10.1002/uog.27460
Source: The Ultrasound Review of Obstetrics and Gynecology - September 6, 2023 Category: Radiology Authors: D Paladini G Biancotto F D Sala M Severino A Rossi Source Type: research

X-linked neuronal migration disorders: Gender differences and insights for genetic screening
Int J Dev Neurosci. 2023 Aug 13. doi: 10.1002/jdn.10290. Online ahead of print.ABSTRACTCortical development depends on neuronal migration of both excitatory and inhibitory interneurons. Neuronal migration disorders (NMDs) are conditions characterised by anatomical cortical defects leading to varying degrees of neurocognitive impairment, developmental delay and seizures. Refractory epilepsy affects 15 million people worldwide, and it is thought that cortical developmental disorders are responsible for 25% of childhood cases. However, little is known about the epidemiology of these disorders, nor are their aetiologies fully ...
Source: International Journal of Developmental Neuroscience - August 13, 2023 Category: Neuroscience Authors: Juliet Edey Payam Soleimani-Nouri Amelia Dawson-Kavanagh Muhamad Saad Imran Azeem Vasso Episkopou Source Type: research

Prenatal diagnosis of microcephaly with simplified gyral pattern: series of 8 cases
This article is protected by copyright. All rights reserved.PMID:37551048 | DOI:10.1002/uog.27450
Source: The Ultrasound Review of Obstetrics and Gynecology - August 8, 2023 Category: Radiology Authors: S Cabet A Putoux G Lesca A Lesage M Massoud L Guibaud Collaborators Source Type: research

Exome Sequencing and the Identification of New Genes and Shared Mechanisms in Polymicrogyria
This genetic association study assesses germline genetic causes of polymicrogyria in a large cohort and considers novel polymicrogyria gene associations.
Source: JAMA Neurology - July 24, 2023 Category: Neurology Source Type: research

Obliterated cavum septi pellucidi: Clinical significance and role of fetal magnetic resonance
ConclusionsApparently isolated oCSP at mid-pregnancy is a transient finding with the visualization of the fluid later in pregnancy in up to 70% of cases. At referral, associated defects can be found in around 11% of cases at ultrasound and 8% at fetal MRI indicating the need for a detailed evaluation by expert physicians when oCSP is suspected.
Source: Acta Obstetricia et Gynecologica Scandinavica - May 22, 2023 Category: OBGYN Authors: Ilaria Fantasia, Claudia Ciardo, Gabriella Bracalente, Elisa Filippi, Flora Maria Murru, Anita Spezzacatene, Maura Bin, Olivia Mendez  Quintero, Elisa Montaguti, Christoph Lees, Katherine Papanikolaou, Gianluigi Pilu, Federico Prefumo, Baska Tags: ORIGINAL RESEARCH ARTICLE Source Type: research

Exome sequencing identifies a novel pathogenic variant in RAB3GAP1 causing Warburg Micro syndrome in a Pakistani family
CONCLUSIONS: Identification of this extremely rare variant extends the mutations spectrum of Micro syndrome. Screening more families, especially in underrepresented populations, will help unveil the mutation spectrum underlying this syndrome.PMID:37186309 | DOI:10.1002/jdn.10264
Source: International Journal of Developmental Neuroscience - May 15, 2023 Category: Neuroscience Authors: Wahid Ullah Muhammad Ilyas Muhammad Tariq Maria Imdad Ikram Ullah Stephanie Efthymiou Muhammad Faheem Muhammad Abbas SYNAPS Study Group Muhammad Aamir Muhammad Nouman Henry Houlden Source Type: research

Obliterated cavum septi pellucidi: Clinical significance and role of fetal magnetic resonance
ConclusionsApparently isolated oCSP at mid-pregnancy is a transient finding with the visualization of the fluid later in pregnancy in up to 70% of cases. At referral, associated defects can be found in around 11% of cases at ultrasound and 8% at fetal MRI indicating the need for a detailed evaluation by expert physicians when oCSP is suspected.
Source: Acta Obstetricia et Gynecologica Scandinavica - April 14, 2023 Category: OBGYN Authors: Ilaria Fantasia, Claudia Ciardo, Gabriella Bracalente, Elisa Filippi, Flora Maria Murru, Anita Spezzacatene, Maura Bin, Olivia Mendez  Quintero, Elisa Montaguti, Christoph Lees, Katherine Papanikolaou, Gianluigi Pilu, Federico Prefumo, Baska Tags: ORIGINAL RESEARCH ARTICLE Source Type: research

An Initial Experience of Completion Hemispherotomy via Magnetic Resonance-Guided Laser Interstitial Therapy
Conclusion: We have demonstrated the feasibility of a minimally invasive approach for completion hemispherotomy using MRgLITT. Delayed retreatment was needed in three patients; thus, further study of this technique with comparison to other surgical techniques is warranted.Stereotact Funct Neurosurg
Source: Stereotactic and Functional Neurosurgery - April 14, 2023 Category: Neurosurgery Source Type: research

Genetic analysis of periventricular nodular heterotopia 7 caused by a novel NEDD4L missense mutation: Case and literature summary
ConclusionFunctional 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 toNEDD4L.
Source: Molecular Genetics & Genomic Medicine - March 19, 2023 Category: Genetics & Stem Cells Authors: Juan Liu, Jihong Hu, Yaqing Duan, Rong Qin, Chunguang Guo, Hongtao Zhou, Hua Liu, Chunlei Liu Tags: ORIGINAL ARTICLE Source Type: research