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List of works by Katia Hardies

Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders.

scientific article published on 4 March 2017

Lessons learned from gene identification studies in Mendelian epilepsy disorders.

scientific article

Loss of SYNJ1 dual phosphatase activity leads to early onset refractory seizures and progressive neurological decline.

scientific article published on 19 July 2016

Loss of synaptic Zn2+ transporter function increases risk of febrile seizures

scientific journal article

PRRT2 mutations: exploring the phenotypical boundaries.

scientific article published on 7 October 2013

Recessive mutations in SLC35A3 cause early onset epileptic encephalopathy with skeletal defects.

scientific article published in April 2017

Targeted sequencing of 351 candidate genes for epileptic encephalopathy in a large cohort of patients.

scientific article published on 30 July 2016

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