List of works - Candace T Myers

Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly.

scientific article published on 19 April 2018

CHD2 variants are a risk factor for photosensitivity in epilepsy

scientific article published on 17 March 2015

Damaging de novo missense variants in EEF1A2 lead to a developmental and degenerative epileptic-dyskinetic encephalopathy

scientific article published on 20 March 2020

De Novo Mutations in PPP3CA Cause Severe Neurodevelopmental Disease with Seizures

scientific article published on 15 September 2017

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias

scientific article published on 18 October 2018

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias

scientific article published on 01 March 2019

De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder

scientific article published on 26 July 2018

Defining the phenotypic spectrum of SLC6A1 mutations

scientific article published on 8 January 2018

Developmental and epilepsy spectrum of KCNB1 encephalopathy with long-term outcome

scientific article published on 21 September 2020

Expanding the genetic and phenotypic relevance of KCNB1 variants in developmental and epileptic encephalopathies: 27 new patients and overview of the literature

scientific article published on 04 October 2019

GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects

scientific article published on 4 April 2017

Genetic heterogeneity in infantile spasms

scientific article published on 29 July 2019

High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies

scientific article published in November 2017

Mutations in GABRB3: From febrile seizures to epileptic encephalopathies.

scientific article published on 4 January 2017

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

scientific article published on 04 November 2020

Not all SCN1A epileptic encephalopathies are Dravet syndrome: Early profound Thr226Met phenotype

scientific article published on 9 August 2017

Parental Mosaicism in "De Novo" Epileptic Encephalopathies.

scientific article

encephalopathy: A distinctive generalized developmental and epileptic encephalopathy

scientific article published on 12 December 2018

List of works by Candace T Myers

Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly.

CHD2 variants are a risk factor for photosensitivity in epilepsy

Damaging de novo missense variants in EEF1A2 lead to a developmental and degenerative epileptic-dyskinetic encephalopathy

De Novo Mutations in PPP3CA Cause Severe Neurodevelopmental Disease with Seizures

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias

De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder

Defining the phenotypic spectrum of SLC6A1 mutations

Developmental and epilepsy spectrum of KCNB1 encephalopathy with long-term outcome

Expanding the genetic and phenotypic relevance of KCNB1 variants in developmental and epileptic encephalopathies: 27 new patients and overview of the literature

GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects

Genetic heterogeneity in infantile spasms

High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies

Mutations in GABRB3: From febrile seizures to epileptic encephalopathies.

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

Not all SCN1A epileptic encephalopathies are Dravet syndrome: Early profound Thr226Met phenotype

Parental Mosaicism in "De Novo" Epileptic Encephalopathies.

encephalopathy: A distinctive generalized developmental and epileptic encephalopathy