List of works by Tania Djémié

De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndrome

scientific article

Diagnostic implications of genetic copy number variation in epilepsy plus

scientific article published on 13 March 2019

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

scientific article published on 19 July 2016

PRRT2 mutations: exploring the phenotypical boundaries.

scientific article published on 7 October 2013

Phenotypic spectrum of GABRA1: From generalized epilepsies to severe epileptic encephalopathies.

scientific article

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

scientific article published on 30 July 2016

The phenotypic spectrum of SCN8A encephalopathy

scientific article

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