Sensitive quantitative detection of somatic mosaic mutation in "double cortex" syndrome.

No abstract is available for this paper.

• Publication year

  2017

• Venue

  Epileptic disorders

• Publication date

  2017-12-01

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1684/epd.2017.0944PMID 29258966
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• One thousand somatic SNVs per skin fibroblast cell set baseline of mosaic mutational load with patterns that suggest proliferative origin.

  2017cited by this paper
• Monitoring response to therapy in melanoma by quantifying circulating tumour DNA with droplet digital PCR for BRAF and NRAS mutations

  2015cited by this paper
• Sequence artifacts in DNA from formalin-fixed tissues: causes and strategies for minimization.

  2015cited by this paper
• Quantitative methodology is critical for assessing DNA methylation and impacts on correlation with patient outcome

  2014cited by this paper
• Noninvasive Detection of Response and Resistance in EGFR-Mutant Lung Cancer Using Quantitative Next-Generation Genotyping of Cell-Free Plasma DNA

  2014cited by this paper
• Somatic mutations in cerebral cortical malformations.

  2014cited by this paper
• Somatic Mutation, Genomic Variation, and Neurological Disease

  2013cited by this paper
• Sturge-Weber syndrome and port-wine stains caused by somatic mutation in GNAQ.

  2013cited by this paper
• Dramatic reduction of sequence artefacts from DNA isolated from formalin-fixed cancer biopsies by treatment with uracil-DNA glycosylase

  2012cited by this paper
• A Novel Missense Mutation in LIS1 in a Child With Subcortical Band Heterotopia and Pachygyria Inherited From His Mildly Affected Mother With Somatic Mosaicism

  2010cited by this paper
• Timing of de novo mutagenesis--a twin study of sodium-channel mutations.

  2010cited by this paper
• Location and type of mutation in the LIS1 gene do not predict phenotypic severity

  2007cited by this paper
• Mosaic mutations of the LIS1 gene cause subcortical band heterotopia

  2003cited by this paper
• Subcortical band heterotopia in rare affected males can be caused by missense mutations in DCX (XLIS) or LIS1.

  1999cited by this paper
• Doublecortin, a brain-specific gene mutated in human X-linked lissencephaly and double cortex syndrome, encodes a putative signaling protein.

  1998cited by this paper

• Somatic variants as a cause of drug‐resistant epilepsy including mesial temporal lobe epilepsy with hippocampal sclerosis

  2024cites this paper
• Clinical and Surgical Approach for Cerebral Cortical Dysplasia.

  2023cites this paper
• Genetic aetiologies for childhood speech disorder: novel pathways co-expressed during brain development

  2022cites this paper
• Non-pharmacological treatment options of drug-resistant epilepsy in subcortical band heterotopia: systematic review and illustrative case

  2022cites this paper
• Mosaicism in tuberous sclerosis complex: Lowering the threshold for clinical reporting

  2022cites this paper
• Somatic mosaicism in the diseased brain

  2022cites this paper
• Cerebrospinal fluid liquid biopsy for detecting somatic mosaicism in brain

  2021cites this paper
• Cutting edge approaches to detecting brain mosaicism associated with common focal epilepsies: implications for diagnosis and potential therapies

  2021cites this paper
• Sensitive detection of FGFR1 N546K mosaic mutation in patient with encephalocraniocutaneous lipomatosis and pilocytic astrocytoma

  2019cites this paper
• Somatic mutation: The hidden genetics of brain malformations and focal epilepsies.

  2019cites this paper
• Epigenetics and Pharmacoepigenetics of Neurodevelopmental and Neuropsychiatric Disorders

  2019cites this paper
• Kufs disease due to mutation of CLN6: clinical, pathological and molecular genetic features

  2018cites this paper