Tubulin genes and malformations of cortical development.
Sign Up to like & getrecommendations! Published in 2018 at "European journal of medical genetics"
DOI: 10.1016/j.ejmg.2018.07.012
Abstract: A large number of genes encoding for tubulin proteins are expressed in the developing brain. Each is subject to specific spatial and temporal expression patterns. However, most are highly expressed in post-mitotic neurons during stages… read more here.
Keywords: tubulin genes; cortical development; malformations cortical; tubulin ... See more keywords
Malformations of cortical development: New surgical advances.
Sign Up to like & getrecommendations! Published in 2019 at "Revue neurologique"
DOI: 10.1016/j.neurol.2019.01.392
Abstract: Epilepsy related to malformations of cortical development is frequently drug resistant or requires heavy medication, therefore surgery is key in their management. The role of stereotactic surgery has recently changed the diagnosis and treatment of… read more here.
Keywords: development new; cortical development; malformations cortical; surgical advances ... See more keywords
Loss of BAF (mSWI/SNF) chromatin-remodeling ATPase Brg1 causes multiple malformations of cortical development in mice.
Sign Up to like & getrecommendations! Published in 2022 at "Human molecular genetics"
DOI: 10.1093/hmg/ddac127
Abstract: Mutations in genes encoding subunits of the BAF (BRG1/BRM-associated factor) complex cause various neurodevelopmental diseases. However, the underlying pathophysiology remains largely unknown. Here, we analyzed the function of Brg1, a core ATPase of BAF complexes,… read more here.
Keywords: brg1 causes; malformations cortical; cortical development; baf ... See more keywords
Exome Sequencing Identifies De Novo DYNC1H1 Mutations Associated With Distal Spinal Muscular Atrophy and Malformations of Cortical Development
Sign Up to like & getrecommendations! Published in 2017 at "Journal of Child Neurology"
DOI: 10.1177/0883073816683083
Abstract: Exome sequencing has become a formidable tool for identifying potential de novo variants in causative genes of human diseases, such as neurodegenerative disorders. This article describes a 16-month-old girl with spinal muscular atrophy with lower… read more here.
Keywords: exome sequencing; cortical development; spinal muscular; malformations cortical ... See more keywords
Extending the Phenotype Related to SCN1A Gene: Arthrogryposis, Movement Disorders, and Malformations of Cortical Development
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Child Neurology"
DOI: 10.1177/08830738211072694
Abstract: Background Expand the knowledge about the clinical phenotypes associated with pathogenic or likely pathogenic variants in the SCN1A gene. Methods The study was carried out in 15 patients with SCN1A variants. The complete phenotype of… read more here.
Keywords: phenotype; malformations cortical; cortical development; scn1a gene ... See more keywords
Genetic Testing for Malformations of Cortical Development
Sign Up to like & getrecommendations! Published in 2022 at "Neurology: Genetics"
DOI: 10.1212/nxg.0000000000200032
Abstract: Background and Objectives Malformations of cortical development (MCD), though individually rare, constitute a significant burden of disease. The diagnostic yield of next-generation sequencing (NGS) in these patients varies across studies and methods, and novel genes… read more here.
Keywords: malformations cortical; wes; cortical development; diagnostic yield ... See more keywords
Malformations of cortical development: genetic mechanisms and diagnostic approach
Sign Up to like & getrecommendations! Published in 2017 at "Korean Journal of Pediatrics"
DOI: 10.3345/kjp.2017.60.1.1
Abstract: Malformations of cortical development are rare congenital anomalies of the cerebral cortex, wherein patients present with intractable epilepsy and various degrees of developmental delay. Cases show a spectrum of anomalous cortical formations with diverse anatomic… read more here.
Keywords: cortical development; malformations cortical; approach malformations; diagnostic approach ... See more keywords
A New Rat Model of Epileptic Spasms Based on Methylazoxymethanol-Induced Malformations of Cortical Development
Sign Up to like & getrecommendations! Published in 2017 at "Frontiers in Neurology"
DOI: 10.3389/fneur.2017.00271
Abstract: Malformations of cortical development (MCDs) can cause medically intractable epilepsies and cognitive disabilities in children. We developed a new model of MCD-associated epileptic spasms by treating rats prenatally with methylazoxymethanol acetate (MAM) to induce cortical… read more here.
Keywords: cortical development; epileptic spasms; malformations cortical; nmda ... See more keywords
Case report: Genotype and phenotype of DYNC1H1-related malformations of cortical development: a case report and literature review
Sign Up to like & getrecommendations! Published in 2023 at "Frontiers in Neurology"
DOI: 10.3389/fneur.2023.1163803
Abstract: Background Mutations in the dynein cytoplasmic 1 heavy chain 1 (DYNC1H1) gene are linked to malformations of cortical development (MCD), which may be accompanied by central nervous system (CNS) manifestations. Here, we present the case… read more here.
Keywords: malformations cortical; case report; dync1h1; case ... See more keywords
Epigenetic Regulation of mTOR Pathway in Malformations of Cortical Development
Sign Up to like & getrecommendations! Published in 2019 at "Neurology India"
DOI: 10.4103/0028-3886.273613
Abstract: Malformations of cortical development (MCDs) represent a heterogeneous cohort of cortical malformations, including lissencephaly, microcephaly, heterotopia, and focal cortical dysplasia (FCD). MCDs often result in a spectrum of neurological dysfunctions, such as developmental delays, intellectual… read more here.
Keywords: cortical development; malformations cortical; mtor; epigenetic regulation ... See more keywords
The generation and properties of human cortical organoids as a disease model for malformations of cortical development
Sign Up to like & getrecommendations! Published in 2023 at "Neural Regeneration Research"
DOI: 10.4103/1673-5374.369100
Abstract: As three-dimensional “organ-like” aggregates, human cortical organoids have emerged as powerful models for studying human brain evolution and brain disorders with unique advantages of human-specificity, fidelity and manipulation. Human cortical organoids derived from human pluripotent… read more here.
Keywords: malformations cortical; development; human cortical; cortical development ... See more keywords