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List of works by Alison M Muir

AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders

scientific article published on 12 July 2019

An International Multicenter Evaluation of Type 5 Long QT Syndrome: A Low Penetrant Primary Arrhythmic Condition

scientific article published on 16 January 2020

Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders

scientific article published on 15 October 2019

FBXO28 causes developmental and epileptic encephalopathy with profound intellectual disability

scientific article published on 06 December 2020

Genetic heterogeneity in infantile spasms

scientific article published on 29 July 2019

Loss-of-Function KCNE2 Variants: True Monogenic Culprits of Long-QT Syndrome or Proarrhythmic Variants Requiring Secondary Provocation?

scientific article published on August 2017

NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns

scientific article published on 04 November 2020

SCN5A Mutation Type and a Genetic Risk Score Associate Variably with Brugada Syndrome Phenotype in SCN5A Families

scientific article published on 09 November 2020

The epileptology of GNB5 encephalopathy

scientific article published on 20 October 2019

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