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List of works by Sara Baldassari

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

Autosomal dominant partial epilepsy with auditory features: a new locus on chromosome 19q13.11-q13.31.

scientific article

Contribution of ultrarare variants in mTOR pathway genes to sporadic focal epilepsies

article

Correction to: The landscape of epilepsy-related GATOR1 variants

scientific article published on 01 July 2019

Correction: The landscape of epilepsy-related GATOR1 variants

scientific article published on 01 August 2019

DEPDC5 mutations in epilepsy with auditory features

scientific article published in February 2016

Epilepsy with auditory features: A heterogeneous clinico-molecular disease.

scientific article published on 14 May 2015

Epilepsy with auditory features: Contribution of known genes in 112 patients

scientific article published in 2021

GATOR1 complex: the common genetic actor in focal epilepsies

scientific article published on 19 May 2016

Identity by descent fine mapping of familial adult myoclonus epilepsy (FAME) to 2p11.2-2q11.2.

scientific article published on July 2016

Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2

scientific article published on 29 October 2019

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

scientific article published on 27 October 2015

PRIMA1 mutation: a new cause of nocturnal frontal lobe epilepsy

scientific article

Phenotype variability of GLUT1 deficiency syndrome: Description of a case series with novel SLC2A1 gene mutations

scientific article published on 3 January 2018

Profile of neuropsychological impairment in Sleep-related Hypermotor Epilepsy

scientific article published on 30 April 2018

Sleep-related hypermotor epilepsy (SHE): Contribution of known genes in 103 patients

scientific article published on 23 November 2019

The landscape of epilepsy-related GATOR1 variants

scientific article published on 10 August 2018

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