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  • 1-10 ل  57 نتائج ل ""Somatic mosaicism""

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Subject : epilepsy
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Academic Journal

Brain somatic mosaicism in epilepsy: Bringing results back to the clinic

Subjects: Epilepsy; Somatic mosaicism; Mosaic variants

  • Source: Neurobiology of Disease, Vol 181, Iss , Pp 106104- (2023)

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Academic Journal

Technological and computational approaches to detect somatic mosaicism in epilepsy

Subjects: Focal cortical dysplasia; Hemimegalencephaly; Genetics

  • Source: Neurobiology of Disease, Vol 184, Iss , Pp 106208- (2023)

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Academic Journal

Hippocampal and neocortical BRAF mutant non-expansive lesions in focal epilepsies.

  • Authors : Lerond J; Institut du Cerveau-Paris Brain Institute-ICM, Inserm, CNRS, Sorbonne Université, Paris, France.; Mathon B

Subjects: Epilepsy, Temporal Lobe*/Epilepsy, Temporal Lobe*/Epilepsy, Temporal Lobe*/pathology ; Neocortex*/Neocortex*/Neocortex*/pathology ; Epilepsies, Partial*/Epilepsies, Partial*/Epilepsies, Partial*/genetics

  • Source: Neuropathology and applied neurobiology [Neuropathol Appl Neurobiol] 2023 Oct; Vol. 49 (5), pp. e12937.Publisher: Blackwell Scientific Publications Country of Publication: England NLM ID: 7609829 Publication Model: Print Cited Medium: Internet ISSN:

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Academic Journal

Comprehensive multi-omic profiling of somatic mutations in malformations of cortical development

Subjects: Genetics; Pediatric; Neurodegenerative

  • Source: Nature Genetics. 55(2)

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Academic Journal

Basal ganglia dysplasia and mTORopathy: A potential cause of postoperative seizures in focal cortical dysplasia

Subjects: brain malformation; dysmorphic neuron; epilepsy

  • Source: Epilepsia Open, Vol 8, Iss 1, Pp 205-210 (2023)

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Academic Journal

Solving the unsolved genetic epilepsies:Current and future perspectives

Subjects: DNA methylation; epilepsy; epilepsy genetics

  • Source: Johannesen , K M , Tümer , Z , Weckhuysen , S , Barakat , T S & Bayat , A 2023 , ' Solving the unsolved genetic epilepsies : Current and future perspectives ' , Epilepsia , vol. 64 , no. 12 , pp.

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Academic Journal

RAS pathway: The new frontier of brain mosaicism in epilepsy

Subjects: RAS signaling; Somatic mosaicism; Epilepsy

  • Source: Neurobiology of Disease, Vol 180, Iss , Pp 106074- (2023)

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KRAS G12D mosaic mutation in a Chinese linear nevus sebaceous syndrome infant

Subjects: Pathology; medicine.medical_specialty; Case Report

  • Source: BMC Medical Genetics

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Academic Journal

Cortical Dysplasia and the mTOR Pathway: How the Study of Human Brain Tissue Has Led to Insights into Epileptogenesis.

  • Authors : Lee WS; Bruce Lefroy Centre, Murdoch Children's Research Institute, Parkville 3052, Australia.; Department of Paediatrics, The University of Melbourne, Parkville 3052, Australia.

Subjects: Drug Resistant Epilepsy/Drug Resistant Epilepsy/Drug Resistant Epilepsy/*etiology ; Epilepsy/Epilepsy/Epilepsy/*metabolism ; Malformations of Cortical Development, Group I/Malformations of Cortical Development, Group I/Malformations of Cortical Development, Group I/*metabolism Focal cortical dysplasia of Taylor

  • Source: International journal of molecular sciences [Int J Mol Sci] 2022 Jan 25; Vol. 23 (3). Date of Electronic Publication: 2022 Jan 25.Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067

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Academic Journal

Slc35a2 mosaic knockout impacts cortical development, dendritic arborisation, and neuronal firing

Subjects: Epilepsy; Cortical malformation; Cortical dysplasia

  • Source: Neurobiology of Disease, Vol 201, Iss , Pp 106657- (2024)

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  • 1-10 ل  57 نتائج ل ""Somatic mosaicism""