Lista de obras -

Clinical and molecular characterization of KCNT1-related severe early-onset epilepsy

artículo científico publicado en 2017

Delineation of the movement disorders associated withFOXG1mutations: Table 1

artículo científico publicado en 2016

Episodic dyscontrol syndrome

scientific article published on 01 June 2010

GABRB3 mutations: a new and emerging cause of early infantile epileptic encephalopathy.

artículo científico publicado en 2015

GNAO1 encephalopathy: Broadening the phenotype and evaluating treatment and outcome.

artículo científico publicado en 2017

Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis.

artículo científico publicado en 2016

Intravenous levetiracetam in acute repetitive seizures and status epilepticus in children: Experience from a children's hospital ⬇️

artículo científico publicado el 19 de junio de 2012

Migrating partial seizures of infancy: expansion of the electroclinical, radiological and pathological disease spectrum.

artículo científico publicado en 2013

Mutations in SLC12A5 in epilepsy of infancy with migrating focal seizures

artículo científico publicado en 2015

Myoclonic epilepsy in a child with 17q22-q23.1 deletion

artículo científico publicado en 2013

Navigating the genetic landscape of childhood epilepsy: a new perspective?

scientific article published on 10 March 2019

RARS2 mutations in a sibship with infantile spasms

artículo científico publicado en 2016

SLC25A22 is a novel gene for migrating partial seizures in infancy.

artículo científico publicado en 2013

Severe infantile epileptic encephalopathy due to mutations in PLCB1: expansion of the genotypic and phenotypic disease spectrum

artículo científico publicado en 2014

The expanding spectrum of movement disorders in genetic epilepsies

scientific article published on 29 November 2019

The genetic landscape of the epileptic encephalopathies of infancy and childhood.

artículo científico publicado en 2015

Treatment of epileptic encephalopathies

artículo científico publicado en 2013

VGKC-complex antibody mediated encephalitis presenting with psychiatric features and neuroleptic malignant syndrome - further expanding the phenotype

artículo científico publicado en 2012

Lista de obras de

Clinical and molecular characterization of KCNT1-related severe early-onset epilepsy

Delineation of the movement disorders associated withFOXG1mutations: Table 1

Episodic dyscontrol syndrome

GABRB3 mutations: a new and emerging cause of early infantile epileptic encephalopathy.

GNAO1 encephalopathy: Broadening the phenotype and evaluating treatment and outcome.

Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis.

Intravenous levetiracetam in acute repetitive seizures and status epilepticus in children: Experience from a children's hospital ⬇️

Migrating partial seizures of infancy: expansion of the electroclinical, radiological and pathological disease spectrum.

Mutations in SLC12A5 in epilepsy of infancy with migrating focal seizures

Myoclonic epilepsy in a child with 17q22-q23.1 deletion

Navigating the genetic landscape of childhood epilepsy: a new perspective?

RARS2 mutations in a sibship with infantile spasms

SLC25A22 is a novel gene for migrating partial seizures in infancy.

Severe infantile epileptic encephalopathy due to mutations in PLCB1: expansion of the genotypic and phenotypic disease spectrum

The expanding spectrum of movement disorders in genetic epilepsies

The genetic landscape of the epileptic encephalopathies of infancy and childhood.

Treatment of epileptic encephalopathies

VGKC-complex antibody mediated encephalitis presenting with psychiatric features and neuroleptic malignant syndrome - further expanding the phenotype