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List of works by Sara Baldassari

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Mutations in the mammalian target of rapamycin pathway regulators NPRL2 and NPRL3 cause focal epilepsy

scientific article published on 27 October 2015
Epilepsy with auditory features: A heterogeneous clinico-molecular disease.

scientific article published on 14 May 2015
Identity by descent fine mapping of familial adult myoclonus epilepsy (FAME) to 2p11.2-2q11.2.

scientific article published on July 2016
The landscape of epilepsy-related GATOR1 variants

scientific article published on 10 August 2018
Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2

scientific article published on 29 October 2019
GATOR1 complex: the common genetic actor in focal epilepsies

scientific article published on 19 May 2016
PRIMA1 mutation: a new cause of nocturnal frontal lobe epilepsy

scientific article
A novel pedigree with familial cortical myoclonic tremor and epilepsy (FCMTE): clinical characterization, refinement of the FCMTE2 locus, and confirmation of a founder haplotype

scientific article
Correction to: The landscape of epilepsy-related GATOR1 variants

scientific article published on 01 July 2019
Autosomal dominant partial epilepsy with auditory features: a new locus on chromosome 19q13.11-q13.31.

scientific article
Correction: The landscape of epilepsy-related GATOR1 variants

scientific article published on 01 August 2019
Profile of neuropsychological impairment in Sleep-related Hypermotor Epilepsy

scientific article published on 30 April 2018
DEPDC5 mutations in epilepsy with auditory features

scientific article published in February 2016
Sleep-related hypermotor epilepsy (SHE): Contribution of known genes in 103 patients

scientific article published on 23 November 2019
Phenotype variability of GLUT1 deficiency syndrome: Description of a case series with novel SLC2A1 gene mutations

scientific article published on 3 January 2018
Epilepsy with auditory features: Contribution of known genes in 112 patients

scientific article published in 2021
Contribution of ultrarare variants in mTOR pathway genes to sporadic focal epilepsies

article

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