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  1. Article ; Online: The fascinating phenotypic spectrum of SCN1A gain-of-function epilepsies.

    Scheffer, Ingrid E

    Epilepsia

    2023  Volume 64, Issue 5, Page(s) 1348–1350

    MeSH term(s) Gain of Function Mutation ; Humans ; Epilepsy/genetics ; NAV1.1 Voltage-Gated Sodium Channel/genetics
    Chemical Substances SCN1A protein, human ; NAV1.1 Voltage-Gated Sodium Channel
    Language English
    Publishing date 2023-03-20
    Publishing country United States
    Document type Journal Article ; Comment
    ZDB-ID 216382-2
    ISSN 1528-1167 ; 0013-9580
    ISSN (online) 1528-1167
    ISSN 0013-9580
    DOI 10.1111/epi.17562
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    Zs.A 517: Show issues Location:
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  2. Article ; Online: Lightning progress in child neurology in the past 20 years.

    Scheffer, Ingrid E

    The Lancet. Neurology

    2022  Volume 21, Issue 2, Page(s) 111–113

    MeSH term(s) Child ; Humans ; Neurology/trends
    Language English
    Publishing date 2022-02-27
    Publishing country England
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 2081241-3
    ISSN 1474-4465 ; 1474-4422
    ISSN (online) 1474-4465
    ISSN 1474-4422
    DOI 10.1016/S1474-4422(22)00002-3
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  3. Article: Solving the Molecular Basis of the Developmental and Epileptic Encephalopathies: Are We there Yet?

    Scheffer, Ingrid E

    Epilepsy currents

    2021  Volume 21, Issue 6, Page(s) 430–432

    Language English
    Publishing date 2021-09-27
    Publishing country United States
    Document type Journal Article
    ZDB-ID 2270080-8
    ISSN 1535-7597
    ISSN 1535-7597
    DOI 10.1177/15357597211038180
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  4. Article ; Online: How gene discovery has transformed management of people with epilepsy.

    Scheffer, Ingrid E

    European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society

    2020  Volume 24, Page(s) 2

    MeSH term(s) Epilepsy ; Genetic Association Studies ; High-Throughput Nucleotide Sequencing ; Humans ; Self Care
    Language English
    Publishing date 2020-01-10
    Publishing country England
    Document type Editorial ; Comment
    ZDB-ID 1397146-3
    ISSN 1532-2130 ; 1090-3798
    ISSN (online) 1532-2130
    ISSN 1090-3798
    DOI 10.1016/j.ejpn.2020.01.010
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    Zs.MO 641: Show issues

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  5. Article ; Online: Molecular epidemiology of monogenic epilepsies answers key clinical questions.

    Scheffer, Ingrid E

    Brain : a journal of neurology

    2019  Volume 142, Issue 8, Page(s) 2173–2175

    MeSH term(s) Child ; Epilepsy ; Humans ; Incidence ; Molecular Epidemiology ; Phenotype ; Prospective Studies
    Language English
    Publishing date 2019-07-25
    Publishing country England
    Document type Journal Article ; Comment
    ZDB-ID 80072-7
    ISSN 1460-2156 ; 0006-8950
    ISSN (online) 1460-2156
    ISSN 0006-8950
    DOI 10.1093/brain/awz208
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  6. Article: The Key to FAME: Intronic Repeat Expansions Cause Human Epilepsies.

    Scheffer, Ingrid E

    Epilepsy currents

    2018  Volume 18, Issue 4, Page(s) 238–239

    Language English
    Publishing date 2018-09-12
    Publishing country United States
    Document type Journal Article ; Comment
    ZDB-ID 2270080-8
    ISSN 1535-7597
    ISSN 1535-7597
    DOI 10.5698/1535-7597.18.4.238
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  7. Article ; Online: ANA Podcasts & Webinars: Genetics of Epilepsy.

    Das, Rohit R / Goss, Adeline L / Scheffer, Ingrid E

    Annals of neurology

    2022  Volume 93, Issue 1, Page(s) 15

    MeSH term(s) Humans ; Epilepsy/genetics ; Educational Measurement
    Language English
    Publishing date 2022-12-12
    Publishing country United States
    Document type Journal Article
    ZDB-ID 80362-5
    ISSN 1531-8249 ; 0364-5134
    ISSN (online) 1531-8249
    ISSN 0364-5134
    DOI 10.1002/ana.26546
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    Zs.MO 478: Show issues

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  8. Article ; Online: The Australian Academy of Health and Medical Sciences: an authoritative, independent voice in the Australian landscape.

    Scheffer, Ingrid E / Frazer, Ian H

    The Medical journal of Australia

    2021  Volume 214, Issue 11, Page(s) 502–504.e1

    MeSH term(s) Australia ; Biomedical Research/education ; Career Choice ; Clinical Medicine/education ; Education, Medical, Graduate/economics ; Education, Medical, Graduate/methods ; Humans ; Training Support/economics
    Language English
    Publishing date 2021-05-24
    Publishing country Australia
    Document type Journal Article
    ZDB-ID 186082-3
    ISSN 1326-5377 ; 0025-729X
    ISSN (online) 1326-5377
    ISSN 0025-729X
    DOI 10.5694/mja2.51089
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  9. Article ; Online: A new classification and class 1 evidence transform clinical practice in epilepsy.

    Scheffer, Ingrid E

    The Lancet. Neurology

    2017  Volume 17, Issue 1, Page(s) 7–8

    Language English
    Publishing date 2017-12-16
    Publishing country England
    Document type Journal Article
    ZDB-ID 2079704-7
    ISSN 1474-4465 ; 1474-4422
    ISSN (online) 1474-4465
    ISSN 1474-4422
    DOI 10.1016/S1474-4422(17)30432-5
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  10. Article ; Online: Precision Medicine Approaches for Infantile-Onset Developmental and Epileptic Encephalopathies.

    Myers, Kenneth A / Scheffer, Ingrid E

    Annual review of pharmacology and toxicology

    2021  Volume 62, Page(s) 641–662

    Abstract: Epilepsy is an etiologically heterogeneous condition; however, genetic factors are thought to play a role in most patients. For those with infantile-onset developmental and epileptic encephalopathy (DEE), a genetic diagnosis is now obtained in more than ... ...

    Abstract Epilepsy is an etiologically heterogeneous condition; however, genetic factors are thought to play a role in most patients. For those with infantile-onset developmental and epileptic encephalopathy (DEE), a genetic diagnosis is now obtained in more than 50% of patients. There is considerable motivation to utilize these molecular diagnostic data to help guide treatment, as children with DEEs often have drug-resistant seizures as well as developmental impairment related to cerebral epileptiform activity. Precision medicine approaches have the potential to dramatically improve the quality of life for these children and their families. At present, treatment can be targeted for patients with diagnoses in many genetic causes of infantile-onset DEE, including genes encoding sodium or potassium channel subunits, tuberous sclerosis, and congenital metabolic diseases. Precision medicine may refer to more intelligent choices of conventional antiseizure medications, repurposed agents previously used for other indications, novel compounds, enzyme replacement, or gene therapy approaches.
    MeSH term(s) Brain Diseases ; Child ; Humans ; Precision Medicine ; Quality of Life
    Language English
    Publishing date 2021-09-27
    Publishing country United States
    Document type Journal Article
    ZDB-ID 196587-6
    ISSN 1545-4304 ; 0362-1642
    ISSN (online) 1545-4304
    ISSN 0362-1642
    DOI 10.1146/annurev-pharmtox-052120-084449
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