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  1. Article ; Online: Genomic testing in pediatric epilepsy.

    Thodeson, Drew M / Park, Jason Y

    Cold Spring Harbor molecular case studies

    2019  Volume 5, Issue 4

    Abstract: Genomic testing has become routine in the diagnosis and management of pediatric patients with epilepsy. In a single test, hundreds to thousands of genes are examined for DNA changes that may not only explain the etiology of the patient's condition but ... ...

    Abstract Genomic testing has become routine in the diagnosis and management of pediatric patients with epilepsy. In a single test, hundreds to thousands of genes are examined for DNA changes that may not only explain the etiology of the patient's condition but may also inform management and seizure control. Clinical genomic testing has been in clinical practice for less than a decade, and because of this short period of time, the appropriate clinical use and interpretation of genomic testing is still evolving. Compared to the previous era of single-gene testing in epilepsy, which yielded a diagnosis in <5% of cases, many clinical genomic studies of epilepsy have demonstrated a clinically significant diagnosis in 30% or more of patients tested. This review will examine key studies of the past decade and indicate the clinical scenarios in which genomic testing should be considered standard of care.
    MeSH term(s) Child ; Child, Preschool ; Epilepsy/genetics ; Genetic Predisposition to Disease/genetics ; Genetic Testing/methods ; Genetic Testing/trends ; Genome/genetics ; Genomics/methods ; Humans ; Seizures/genetics
    Language English
    Publishing date 2019-08-01
    Publishing country United States
    Document type Journal Article ; Review
    ZDB-ID 2835759-0
    ISSN 2373-2873 ; 2373-2873
    ISSN (online) 2373-2873
    ISSN 2373-2873
    DOI 10.1101/mcs.a004135
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article ; Online: Nicotine: A Targeted Therapy for Epilepsy Due to nAChR Gene Variants.

    Fox, Jordana / Thodeson, Drew M / Dolce, Alison M

    Journal of child neurology

    2020  Volume 36, Issue 5, Page(s) 371–377

    Abstract: Objective: Genetic variants of the neuronal nicotinic acetylcholine receptor (nAChR) cause autosomal dominant sleep-related hypermotor epilepsy. Approximately 30% of autosomal dominant sleep-related hypermotor epilepsy patients are medically intractable. ...

    Abstract Objective: Genetic variants of the neuronal nicotinic acetylcholine receptor (nAChR) cause autosomal dominant sleep-related hypermotor epilepsy. Approximately 30% of autosomal dominant sleep-related hypermotor epilepsy patients are medically intractable. In preclinical models, pathogenic nAChR variants cause a gain of function mutation with sensitivity to acetylcholine antagonists and agonists. Nicotine modifies the activity of nAChRs and can be used as targeted therapy.
    Methods: We reviewed next-generation sequencing epilepsy panels from a single laboratory (GeneDx) from patients at Children's Medical Center Dallas between 2011 and 2015 and identified patients with nAChR variants. Retrospective review of records included variant details, medical history, neuroimaging findings, and treatment history.
    Results: Twenty-one patients were identified. Four patients were prescribed nicotine patches for intractable seizures. Three of 4 patients had a clinical response, with >50% seizure reduction.
    Conclusions: Treatment with a nicotine patch can be an effective therapy in epilepsy patients with nAChR gene variants. We propose consideration of transdermal nicotine treatment in intractable epilepsy with known nAChR variants as an experimental therapy. Further clinical trials are needed to fully define therapeutic effects.
    MeSH term(s) Administration, Cutaneous ; Adolescent ; Adult ; Child ; Epilepsy/drug therapy ; Epilepsy/genetics ; Ganglionic Stimulants/administration & dosage ; Ganglionic Stimulants/therapeutic use ; Genetic Variation/genetics ; High-Throughput Nucleotide Sequencing/methods ; Humans ; Male ; Nicotine/administration & dosage ; Nicotine/therapeutic use ; Receptors, Nicotinic/genetics ; Retrospective Studies ; Treatment Outcome ; Young Adult
    Chemical Substances Ganglionic Stimulants ; Receptors, Nicotinic ; Nicotine (6M3C89ZY6R)
    Language English
    Publishing date 2020-12-07
    Publishing country United States
    Document type Case Reports ; Journal Article ; Systematic Review
    ZDB-ID 639288-x
    ISSN 1708-8283 ; 0883-0738
    ISSN (online) 1708-8283
    ISSN 0883-0738
    DOI 10.1177/0883073820974851
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  3. Article: You Have Brains in Your Head, You Have Organoids in Your Dish, You Can Steer Yourself in any Direction You Wish.

    Thodeson, Drew M / Hsieh, Jenny

    Epilepsy currents

    2017  Volume 17, Issue 5, Page(s) 311–313

    Language English
    Publishing date 2017-07-27
    Publishing country United States
    Document type Journal Article ; Comment
    ZDB-ID 2270080-8
    ISSN 1535-7597
    ISSN 1535-7597
    DOI 10.5698/1535-7597.17.5.311
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  4. Article: Dual effects of

    Nieto-Estevez, Vanesa / Varma, Parul / Mirsadeghi, Sara / Caballero, Jimena / Gamero-Alameda, Sergio / Hosseini, Ali / Goswami, Sonal / Silvosa, Marc J / Thodeson, Drew M / Lybrand, Zane R / Giugliano, Michele / Navara, Christopher / Hsieh, Jenny

    bioRxiv : the preprint server for biology

    2024  

    Abstract: Mutations ... ...

    Abstract Mutations in
    Language English
    Publishing date 2024-01-25
    Publishing country United States
    Document type Preprint
    DOI 10.1101/2024.01.25.577271
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  5. Article: Neural stem cells and epilepsy: functional roles and disease-in-a-dish models

    Thodeson, DrewM / Rebecca Brulet / Jenny Hsieh

    Cell and tissue research. 2018 Jan., v. 371, no. 1

    2018  

    Abstract: Epilepsy is a disorder of the central nervous system characterized by spontaneous recurrent seizures. Although current therapies exist to control the number and severity of clinical seizures, there are no pharmacological cures or disease-modifying ... ...

    Abstract Epilepsy is a disorder of the central nervous system characterized by spontaneous recurrent seizures. Although current therapies exist to control the number and severity of clinical seizures, there are no pharmacological cures or disease-modifying treatments available. Use of transgenic mouse models has allowed an understanding of neural stem cells in their relation to epileptogenesis in mesial temporal lobe epilepsy. Further, with the significant discovery of factors necessary to reprogram adult somatic cell types into pluripotent stem cells, it has become possible to study monogenic epilepsy-in-a-dish using patient-derived neurons. This discovery along with some of the newest technological advances in recapitulating brain development in a dish has brought us closer than ever to a platform in which to study and understand the mechanisms of this disease. These technologies will be critical in understanding the mechanism of epileptogenesis and ultimately lead to improved therapies and precision medicine for patients with epilepsy.
    Keywords adults ; brain ; epilepsy ; medicine ; models ; neurons ; patients ; seizures ; somatic cells ; stem cells ; transgenic animals
    Language English
    Dates of publication 2018-01
    Size p. 47-54.
    Publishing place Springer Berlin Heidelberg
    Document type Article
    Note Review
    ZDB-ID 125067-x
    ISSN 1432-0878 ; 0302-766X
    ISSN (online) 1432-0878
    ISSN 0302-766X
    DOI 10.1007/s00441-017-2675-z
    Database NAL-Catalogue (AGRICOLA)

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  6. Article ; Online: Neural stem cells and epilepsy: functional roles and disease-in-a-dish models.

    Thodeson, Drew M / Brulet, Rebecca / Hsieh, Jenny

    Cell and tissue research

    2017  Volume 371, Issue 1, Page(s) 47–54

    Abstract: Epilepsy is a disorder of the central nervous system characterized by spontaneous recurrent seizures. Although current therapies exist to control the number and severity of clinical seizures, there are no pharmacological cures or disease-modifying ... ...

    Abstract Epilepsy is a disorder of the central nervous system characterized by spontaneous recurrent seizures. Although current therapies exist to control the number and severity of clinical seizures, there are no pharmacological cures or disease-modifying treatments available. Use of transgenic mouse models has allowed an understanding of neural stem cells in their relation to epileptogenesis in mesial temporal lobe epilepsy. Further, with the significant discovery of factors necessary to reprogram adult somatic cell types into pluripotent stem cells, it has become possible to study monogenic epilepsy-in-a-dish using patient-derived neurons. This discovery along with some of the newest technological advances in recapitulating brain development in a dish has brought us closer than ever to a platform in which to study and understand the mechanisms of this disease. These technologies will be critical in understanding the mechanism of epileptogenesis and ultimately lead to improved therapies and precision medicine for patients with epilepsy.
    MeSH term(s) Animals ; Cell Culture Techniques ; Disease Models, Animal ; Epilepsy, Temporal Lobe/drug therapy ; Epilepsy, Temporal Lobe/genetics ; Epilepsy, Temporal Lobe/pathology ; Epilepsy, Temporal Lobe/physiopathology ; Gene Editing ; Humans ; Mice ; Mice, Transgenic ; Mutation ; Neural Stem Cells/physiology ; Neurogenesis ; Neurons/metabolism ; Organoids/metabolism
    Language English
    Publishing date 2017-08-22
    Publishing country Germany
    Document type Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't ; Research Support, U.S. Gov't, Non-P.H.S. ; Review
    ZDB-ID 125067-x
    ISSN 1432-0878 ; 0302-766X
    ISSN (online) 1432-0878
    ISSN 0302-766X
    DOI 10.1007/s00441-017-2675-z
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  7. Article ; Online: Clinical Utility of Reinterpreting Previously Reported Genomic Epilepsy Test Results for Pediatric Patients.

    SoRelle, Jeffrey A / Thodeson, Drew M / Arnold, Susan / Gotway, Garrett / Park, Jason Y

    JAMA pediatrics

    2019  Volume 173, Issue 1, Page(s) e182302

    Abstract: Importance: Clinical genomic tests that examine the DNA sequence of large numbers of genes are commonly used in the diagnosis and management of epilepsy in pediatric patients. The permanence of genomic test result interpretations is not known.: ... ...

    Abstract Importance: Clinical genomic tests that examine the DNA sequence of large numbers of genes are commonly used in the diagnosis and management of epilepsy in pediatric patients. The permanence of genomic test result interpretations is not known.
    Objective: To investigate the value of reinterpreting previously reported genomic test results.
    Design, setting, and participants: This study retrospectively reviewed and reinterpreted genomic test results from July 1, 2012, to August 31, 2015, for pediatric patients who previously underwent genomic epilepsy testing at a single tertiary care pediatric health care facility. Reinterpretation of previously reported variants was conducted in May 2017.
    Main outcomes and measures: Patient reports from clinical genomic epilepsy tests were reviewed, and all reported genetic variants were reinterpreted using 2015 consensus standards and guidelines for interpreting hereditary genetic variants. Three classification tiers were used in the reinterpretation: pathogenic or likely pathogenic variant, variant of uncertain significance (VUS), or benign or likely benign variant.
    Results: A total of 309 patients had genomic epilepsy tests performed (mean [SD] age, 5.6 [0.8] years; 163 [52.8%] male), and 185 patients had a genetic variant reported. The reported variants resulted in 61 patients with and 124 patients without a genetic diagnosis (VUS variants only). On reinterpretation of all reported variants, 67 of the 185 patients (36.2%) had a change in variant classification. Of the 67 patients with a genetic variant change in interpretation, 21 (31.3%) experienced a change in diagnosis. During the 5 years of the study, 19 of 61 patients (31.1%) with a genetic diagnosis and 48 of 124 patients (38.7%) with undiagnosed conditions (VUS only) had their results reclassified. Review of genomic reports issued during the final 2 years of the study identified reclassification of variants in 4 of 16 patients (25.0%) with a pathogenic or likely pathogenic variant and 11 of 41 patients (26.8%) with a VUS.
    Conclusions and relevance: The identified high rate of reinterpretation in this study suggests that interpretation of genomic test results has rapidly evolved during the past 5 years. These findings suggest that reinterpretation of genomic test results should be performed at least every 2 years.
    MeSH term(s) Adolescent ; Child ; Child, Preschool ; Epilepsy/classification ; Epilepsy/diagnosis ; Epilepsy/genetics ; Female ; Genetic Markers ; Genetic Predisposition to Disease ; Genetic Testing/methods ; Genetic Testing/standards ; Genomics ; Humans ; Infant ; Linear Models ; Male ; Practice Guidelines as Topic ; Retrospective Studies
    Chemical Substances Genetic Markers
    Language English
    Publishing date 2019-01-07
    Publishing country United States
    Document type Journal Article ; Research Support, N.I.H., Extramural
    ZDB-ID 2701223-2
    ISSN 2168-6211 ; 2168-6203
    ISSN (online) 2168-6211
    ISSN 2168-6203
    DOI 10.1001/jamapediatrics.2018.2302
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  8. Article ; Online: Fosphenytoin-induced dyskinesias in an infant with Sturge-Weber syndrome.

    Thodeson, Drew M / Reiber, David C / Dolce, Alison M / Sirsi, Deepa

    Neurology

    2016  Volume 86, Issue 16, Page(s) 1561–1562

    Language English
    Publishing date 2016-04-19
    Publishing country United States
    Document type Journal Article
    ZDB-ID 207147-2
    ISSN 1526-632X ; 0028-3878
    ISSN (online) 1526-632X
    ISSN 0028-3878
    DOI 10.1212/WNL.0000000000002595
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