List of works - Giulia Barcia

A novel mutation in STXBP1 causing epileptic encephalopathy (late onset infantile spasms) with partial respiratory chain complex IV deficiency

scientific article published on 3 October 2013

Add-on cannabidiol significantly decreases seizures in 3 patients with SYNGAP1 developmental and epileptic encephalopathy

scientific article published on 01 July 2020

Autism and coeliac disease

scientific article published on 6 November 2007

Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis

scientific article published on 25 January 2014

Correction: IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients

scientific article published on 01 August 2019

De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy

scientific article

Early epileptic encephalopathies associated with STXBP1 mutations: Could we better delineate the phenotype?

scientific article published in November 2013

Encephalopathy in children with Dravet syndrome is not a pure consequence of epilepsy

scientific article

Epilepsy and EEG paroxysmal abnormalities in autism spectrum disorders

scientific article

Exome sequencing findings in 27 patients with myoclonic-atonic epilepsy: Is there a major genetic factor?

scientific article published on 06 June 2019

Hemiconvulsion-hemiplegia syndrome revisited: longitudinal MRI findings in 10 children

scientific article published on 8 August 2013

Human slack potassium channel mutations increase positive cooperativity between individual channels

scientific article

IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients

scientific article published on 12 September 2018

Mutations in Complex I Assembly Factor TMEM126B Result in Muscle Weakness and Isolated Complex I Deficiency

scientific article published on 29 June 2016

Mutations in DOCK7 in individuals with epileptic encephalopathy and cortical blindness

scientific article

Mutations in QARS, encoding glutaminyl-tRNA synthetase, cause progressive microcephaly, cerebral-cerebellar atrophy, and intractable seizures

scientific article

Novel FARS2 variants in patients with early onset encephalopathy with or without epilepsy associated with long survival

scientific article published on 09 November 2020

Status epilepticus as a main manifestation of posterior reversible encephalopathy syndrome after pediatric hematopoietic stem cell transplantation

scientific article published on 11 October 2011

Stimulation of Slack K(+) Channels Alters Mass at the Plasma Membrane by Triggering Dissociation of a Phosphatase-Regulatory Complex.

scientific article published on 17 August 2016

The homozygous R504C mutation in MTO1 gene is responsible for ONCE syndrome.

scientific article published on 3 June 2016

Utility of whole exome sequencing for the early diagnosis of pediatric-onset cerebellar atrophy associated with developmental delay in an inbred population

scientific article published on 4 May 2016

List of works by Giulia Barcia

A novel mutation in STXBP1 causing epileptic encephalopathy (late onset infantile spasms) with partial respiratory chain complex IV deficiency

Add-on cannabidiol significantly decreases seizures in 3 patients with SYNGAP1 developmental and epileptic encephalopathy

Autism and coeliac disease

Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis

Correction: IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients

De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy

Early epileptic encephalopathies associated with STXBP1 mutations: Could we better delineate the phenotype?

Encephalopathy in children with Dravet syndrome is not a pure consequence of epilepsy

Epilepsy and EEG paroxysmal abnormalities in autism spectrum disorders

Exome sequencing findings in 27 patients with myoclonic-atonic epilepsy: Is there a major genetic factor?

Hemiconvulsion-hemiplegia syndrome revisited: longitudinal MRI findings in 10 children

Human slack potassium channel mutations increase positive cooperativity between individual channels

IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients

Mutations in Complex I Assembly Factor TMEM126B Result in Muscle Weakness and Isolated Complex I Deficiency

Mutations in DOCK7 in individuals with epileptic encephalopathy and cortical blindness

Mutations in QARS, encoding glutaminyl-tRNA synthetase, cause progressive microcephaly, cerebral-cerebellar atrophy, and intractable seizures

Novel FARS2 variants in patients with early onset encephalopathy with or without epilepsy associated with long survival

Status epilepticus as a main manifestation of posterior reversible encephalopathy syndrome after pediatric hematopoietic stem cell transplantation

Stimulation of Slack K(+) Channels Alters Mass at the Plasma Membrane by Triggering Dissociation of a Phosphatase-Regulatory Complex.

The homozygous R504C mutation in MTO1 gene is responsible for ONCE syndrome.

Utility of whole exome sequencing for the early diagnosis of pediatric-onset cerebellar atrophy associated with developmental delay in an inbred population