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  1. Article ; Online: ECI biocommentary: Gregory Costain.

    Costain, Gregory

    Pediatric research

    2022  Volume 93, Issue 4, Page(s) 744

    Language English
    Publishing date 2022-12-23
    Publishing country United States
    Document type Journal Article
    ZDB-ID 4411-8
    ISSN 1530-0447 ; 0031-3998
    ISSN (online) 1530-0447
    ISSN 0031-3998
    DOI 10.1038/s41390-022-02446-5
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  2. Article ; Online: Third-generation computational approaches for genetic variant interpretation.

    Costain, Gregory / Andrade, Danielle M

    Brain : a journal of neurology

    2023  Volume 146, Issue 2, Page(s) 411–412

    MeSH term(s) Humans ; Genetic Testing ; Genetic Variation/genetics
    Language English
    Publishing date 2023-01-23
    Publishing country England
    Document type Editorial ; Comment
    ZDB-ID 80072-7
    ISSN 1460-2156 ; 0006-8950
    ISSN (online) 1460-2156
    ISSN 0006-8950
    DOI 10.1093/brain/awad011
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  3. Article ; Online: Epilepsy in KBG Syndrome: Report of Additional Cases.

    Whitney, Robyn / Komar, Madeline / Yoganathan, Sangeetha / Costain, Gregory / Jain, Puneet

    Pediatric neurology

    2023  Volume 151, Page(s) 138–142

    Abstract: Background: KBG syndrome is a genetic disorder characterized by short stature, dysmorphic features, macrodontia, cognitive impairment, and limb anomalies. Epilepsy is an important comorbidity associated with KBG syndrome, although the entire phenotypic ... ...

    Abstract Background: KBG syndrome is a genetic disorder characterized by short stature, dysmorphic features, macrodontia, cognitive impairment, and limb anomalies. Epilepsy is an important comorbidity associated with KBG syndrome, although the entire phenotypic spectrum may not be fully appreciated.
    Methods: We identified five new patients with KBG syndrome-related epilepsy and compared their phenotype to previously reported cases in the literature.
    Results: Five patients with KBG syndrome-related epilepsy were identified. Three patients (60%) were male. Median age of seizure onset was 18 months (interquartile range 5, 32). The epilepsy type was generalized in three patients (60%); in two, the epilepsy type was combined (40%), with focal and generalized seizures. In one patient (20%), the epilepsy syndrome was classifiable and the child was diagnosed with myoclonic-atonic epilepsy. All five patients had pathogenic variants in the ANKRD11 gene. Epilepsy was refractory in two patients (40%). No specific antiseizure medication (ASM) was found to be superior. Literature review yielded 134 cases, median age of seizure onset was 4 years, and seizures were generalized (n = 60, 44%), focal (n = 26, 19%), or combined (n = 13, 10%). An epilepsy syndrome was diagnosed in 12 patients (8.8%). In those with documented response to ASM (n = 49), 22.4% were refractory (n = 11).
    Conclusions: Our study confirms that few patients with epilepsy and KBG syndrome have an identifiable epilepsy syndrome and generalized seizures are most common. We highlight that epilepsy associated with KBG syndrome may occur before age one year and should be an important diagnostic consideration in this age group.
    MeSH term(s) Child ; Humans ; Male ; Infant ; Child, Preschool ; Female ; Abnormalities, Multiple/diagnosis ; Intellectual Disability/complications ; Intellectual Disability/genetics ; Intellectual Disability/diagnosis ; Bone Diseases, Developmental/diagnosis ; Tooth Abnormalities/diagnosis ; Tooth Abnormalities/genetics ; Facies ; Repressor Proteins/genetics ; Epilepsy/complications ; Epilepsy/drug therapy ; Seizures/genetics ; Epilepsies, Myoclonic ; Phenotype
    Chemical Substances Repressor Proteins
    Language English
    Publishing date 2023-12-14
    Publishing country United States
    Document type Journal Article
    ZDB-ID 639164-3
    ISSN 1873-5150 ; 0887-8994
    ISSN (online) 1873-5150
    ISSN 0887-8994
    DOI 10.1016/j.pediatrneurol.2023.12.006
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  4. Article ; Online: [No title information]

    Costain, Gregory / Cohn, Ronald D / Scherer, Stephen W / Marshall, Christian R

    CMAJ : Canadian Medical Association journal = journal de l'Association medicale canadienne

    2022  Volume 194, Issue 5, Page(s) E174–E178

    Title translation Séquençage du génome comme test diagnostique.
    Language French
    Publishing date 2022-01-29
    Publishing country Canada
    Document type Journal Article
    ZDB-ID 215506-0
    ISSN 1488-2329 ; 0008-4409 ; 0820-3946
    ISSN (online) 1488-2329
    ISSN 0008-4409 ; 0820-3946
    DOI 10.1503/cmaj.210549-f
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  5. Article ; Online: Concerns about the heritability of serious mental illness: a not-so-strange interlude.

    Costain, Gregory

    The American journal of psychiatry

    2014  Volume 171, Issue 1, Page(s) 32–33

    MeSH term(s) Drama ; Humans ; Medicine in the Arts ; Mental Disorders/genetics
    Language English
    Publishing date 2014-01
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 280045-7
    ISSN 1535-7228 ; 0002-953X
    ISSN (online) 1535-7228
    ISSN 0002-953X
    DOI 10.1176/appi.ajp.2013.13060842
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  6. Article ; Online: Parental expression is overvalued in the interpretation of rare inherited variants.

    Costain, Gregory

    European journal of human genetics : EJHG

    2014  Volume 23, Issue 1, Page(s) 4–7

    MeSH term(s) Bayes Theorem ; DNA Copy Number Variations ; DiGeorge Syndrome/genetics ; Genetic Diseases, Inborn/genetics ; Humans ; Models, Genetic ; Penetrance ; Research ; Schizophrenia/genetics
    Language English
    Publishing date 2014-04-23
    Publishing country England
    Document type Letter ; Research Support, Non-U.S. Gov't
    ZDB-ID 1141470-4
    ISSN 1476-5438 ; 1018-4813
    ISSN (online) 1476-5438
    ISSN 1018-4813
    DOI 10.1038/ejhg.2014.64
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  7. Article ; Online: A comparative medical genomics approach may facilitate the interpretation of rare missense variation.

    Haque, Bushra / Guirguis, George / Curtis, Meredith / Mohsin, Hera / Walker, Susan / Morrow, Michelle M / Costain, Gregory

    Journal of medical genetics

    2024  

    Abstract: Purpose: To determine the degree to which likely causal missense variants of single-locus traits in domesticated species have features suggestive of pathogenicity in a human genomic context.: Methods: We extracted missense variants from the Online ... ...

    Abstract Purpose: To determine the degree to which likely causal missense variants of single-locus traits in domesticated species have features suggestive of pathogenicity in a human genomic context.
    Methods: We extracted missense variants from the Online Mendelian Inheritance in Animals database for nine animals (cat, cattle, chicken, dog, goat, horse, pig, rabbit and sheep), mapped coordinates to the human reference genome and annotated variants using genome analysis tools. We also searched a private commercial laboratory database of genetic testing results from >400 000 individuals with suspected rare disorders.
    Results: Of 339 variants that were mappable to the same residue and gene in the human genome, 56 had been previously classified with respect to pathogenicity: 31 (55.4%) pathogenic/likely pathogenic, 1 (1.8%) benign/likely benign and 24 (42.9%) uncertain/other. The odds ratio for a pathogenic/likely pathogenic classification in ClinVar was 7.0 (95% CI 4.1 to 12.0, p<0.0001), compared with all other germline missense variants in these same 220 genes. The remaining 283 variants disproportionately had allele frequencies and REVEL scores that supported pathogenicity.
    Conclusion: Cross-species comparisons could facilitate the interpretation of rare missense variation. These results provide further support for comparative medical genomics approaches that connect big data initiatives in human and veterinary genetics.
    Language English
    Publishing date 2024-03-20
    Publishing country England
    Document type Journal Article
    ZDB-ID 220881-7
    ISSN 1468-6244 ; 0022-2593
    ISSN (online) 1468-6244
    ISSN 0022-2593
    DOI 10.1136/jmg-2023-109760
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  8. Article ; Online: A KCNC1-related neurological disorder due to gain of Kv3.1 function.

    Clatot, Jerome / Ginn, Natalie / Costain, Gregory / Goldberg, Ethan M

    Annals of clinical and translational neurology

    2022  Volume 10, Issue 1, Page(s) 111–117

    Abstract: Objective: To further clarify genotype:phenotype correlations associated with variants in KCNC1 encoding the voltage-gated potassium (K+) channel subunit Kv3.1 and which are an emerging cause of a spectrum of neurological disease including intellectual ... ...

    Abstract Objective: To further clarify genotype:phenotype correlations associated with variants in KCNC1 encoding the voltage-gated potassium (K+) channel subunit Kv3.1 and which are an emerging cause of a spectrum of neurological disease including intellectual disability, isolated myoclonus, progressive myoclonus epilepsy, and developmental and epileptic encephalopathy.
    Methods: We describe the clinical and genetic characteristics of a series of three patients with de novo heterozygous missense variants in KCNC1 associated with nonspecific developmental delay/intellectual disability and central hypotonia without epilepsy or ataxia. All three variants lead to amino acids alterations with mild predicted differences in physicochemical properties yet are localized to the S6 pore region of the Kv3.1 protein between the selectivity filter and PXP motif important for K+ channel gating. We performed whole-cell voltage clamp electrophysiological recording of wild-type versus variants in a heterologous mammalian expression system.
    Results: We demonstrate a prominent leftward (hyperpolarized) shift in the voltage dependence of activation and slowed deactivation of all variants in the clinically defined series.
    Interpretation: Electrophysiological recordings are consistent with a gain of K+ channel function that is predicted to exert a loss of function on the excitability of Kv3-expressing high frequency- firing neurons based on the unique electrophysiological properties of Kv3 channels. These results define a clinical-genetic syndrome within the spectrum of KCNC1-related neurological disorders.
    MeSH term(s) Animals ; Ataxia/genetics ; Epilepsy/genetics ; Intellectual Disability/genetics ; Mammals ; Mutation, Missense ; Myoclonic Epilepsies, Progressive/genetics ; Shaw Potassium Channels/genetics ; Syndrome
    Chemical Substances KCNC1 protein, human ; Shaw Potassium Channels
    Language English
    Publishing date 2022-11-23
    Publishing country United States
    Document type Journal Article ; Research Support, N.I.H., Extramural
    ZDB-ID 2740696-9
    ISSN 2328-9503 ; 2328-9503
    ISSN (online) 2328-9503
    ISSN 2328-9503
    DOI 10.1002/acn3.51707
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  9. Article: Understanding genetic variants of uncertain significance.

    Joynt, Alyssa C M / Axford, Michelle M / Chad, Lauren / Costain, Gregory

    Paediatrics & child health

    2021  Volume 27, Issue 1, Page(s) 10–11

    Language English
    Publishing date 2021-09-13
    Publishing country England
    Document type Journal Article
    ZDB-ID 2106767-3
    ISSN 1918-1485 ; 1205-7088
    ISSN (online) 1918-1485
    ISSN 1205-7088
    DOI 10.1093/pch/pxab070
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  10. Article ; Online: Genome sequencing as a diagnostic test.

    Costain, Gregory / Cohn, Ronald D / Scherer, Stephen W / Marshall, Christian R

    CMAJ : Canadian Medical Association journal = journal de l'Association medicale canadienne

    2021  Volume 193, Issue 42, Page(s) E1626–E1629

    MeSH term(s) Diagnostic Tests, Routine ; Genetic Testing/methods ; Genome, Human ; Humans ; Whole Exome Sequencing ; Whole Genome Sequencing
    Language English
    Publishing date 2021-10-21
    Publishing country Canada
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 215506-0
    ISSN 1488-2329 ; 0008-4409 ; 0820-3946
    ISSN (online) 1488-2329
    ISSN 0008-4409 ; 0820-3946
    DOI 10.1503/cmaj.210549
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