KCNC1 ‐related disorders: new de novo variants expand the phenotypic spectrum

Familial cases of progressive myoclonic epilepsy caused by maternal somatic mosaicism of a recurrent KCNC1 p.Arg320His mutation

(2018) Hyuna Kim et al.   BRAIN & DEVELOPMENT

Pharmacological rescue of mutated K v 3.1 ion-channel linked to progressive myoclonus epilepsies

(2018) Anders Sonne Munch et al.   EUROPEAN JOURNAL OF PHARMACOLOGY

De novo FBXO11 mutations are associated with intellectual disability and behavioural anomalies

(2018) Daniel Fritzen et al.   HUMAN GENETICS

De novo variants in neurodevelopmental disorders with epilepsy

(2018) Henrike O. Heyne et al.   NATURE GENETICS

Loss of Function of KCNC1 is associated with intellectual disability without seizures

(2017) Karine Poirier et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

ClinVar: improving access to variant interpretations and supporting evidence

(2017) Melissa J Landrum et al.   NUCLEIC ACIDS RESEARCH

Molecular diagnosis of patients with epilepsy and developmental delay using a customized panel of epilepsy genes

(2017) Laura Ortega-Moreno et al.   PLoS One

Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy

(2016) Katherine L. Helbig et al.   GENETICS IN MEDICINE

Functional Analysis Helps to Define KCNC3 Mutational Spectrum in Dutch Ataxia Cases

(2015) Anna Duarri et al.   PLoS One

A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy

(2014) Mikko Muona et al.   NATURE GENETICS

Progressive myoclonic epilepsies: Definitive and still undetermined causes

(2014) S. Franceschetti et al.   NEUROLOGY

Beta-propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation

(2013) Susan J. Hayflick et al.   BRAIN

Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study

(2012) Anita Rauch et al.   LANCET

Frequency of KCNC3 DNA Variants as Causes of Spinocerebellar Ataxia 13 (SCA13)

(2011) Karla P. Figueroa et al.   PLoS One