Search filters

List of works by Miquel Raspall-Chaure

AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders

scientific article published on 12 July 2019

Aetiology and treatment of epilepsy in a series of 1,557 patients

scientific article published in October 2013

Autoimmune post-herpes simplex encephalitis of adults and teenagers

scientific article

Biallelic PI4KA variants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophy

scientific article published on 01 October 2021

Biallelic SZT2 mutations cause infantile encephalopathy with epilepsy and dysmorphic corpus callosum

scientific article

Clinical and genetic analysis in alternating hemiplegia of childhood: ten new patients from Southern Europe

scientific article published on 17 June 2014

Clinical tuberculosis in 2 of 3 siblings with interleukin-12 receptor beta1 deficiency.

scientific article

Congenital insensitivity to pain with anhidrosis associated with congenital myasthenic syndrome

scientific article

Effect of rescue medication on seizure duration in non-institutionalized children with epilepsy.

scientific article published on 2 August 2017

Epileptic encephalopathy after HHV6 post-transplant acute limbic encephalitis in children: confirmation of a new epilepsy syndrome.

scientific article

Health-related quality of life and the burden of prolonged seizures in noninstitutionalized children with epilepsy

scientific article published on 13 November 2019

Herpes simplex virus encephalitis is a trigger of brain autoimmunity.

scientific article

Homomeric Kv7.2 current suppression is a common feature in KCNQ2 epileptic encephalopathy

scientific article published on 26 November 2018

Levetiracetam and Valproate Retention Rate in Juvenile Myoclonic Epilepsy

scientific article published on 01 November 2016

Low penetrance, broad resistance, and favorable outcome of interleukin 12 receptor beta1 deficiency: medical and immunological implications

scientific article

Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment

scientific article published on 28 March 2019

Neonatal rigid-akinetic syndrome and dentato-olivary dysplasia

scientific article published in February 2006

Novel GCH1 Compound Heterozygosity Mutation in Infancy-Onset Generalized Dystonia

scientific article published on 22 February 2018

Outcome of paediatric convulsive status epilepticus: a systematic review.

scientific article published on September 2006

Paroxysmal exercise-induced dyskinesia, writer's cramp, migraine with aura and absence epilepsy in twin brothers with a novel SLC2A1 missense mutation.

scientific article published on 8 June 2010

Progressive vacuolating glycine leukoencephalopathy with pulmonary hypertension.

scientific article

Rufinamide in children and adults in routine clinical practice

scientific article published on 29 February 2016

Subacute sclerosing panencephalitis: combined treatment with interferon alpha and intraventricular ribavirin

scientific article published in March 2006

The epidemiology of convulsive status epilepticus in children: a critical review.

scientific article published on 18 July 2007

The medical management of the epilepsies in children: conceptual and practical considerations.

scientific article published on January 2008

The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome

scientific article published on 25 September 2017

Thirteen new patients with guanidinoacetate methyltransferase deficiency and functional characterization of nineteen novel missense variants in the GAMT gene.

scientific article

Treatment outcome of twenty-two patients with guanidinoacetate methyltransferase deficiency: An international retrospective cohort study

scientific article published on 16 February 2018

Usefulness of intravenous lacosamide in status epilepticus.

scientific article

[A patient with bilateral lesion in the striatum and slowly progressive dystonia secondary to T14487C mutation in the ND6 gene of complex I of the mitochondrial respiratory chain]

scientific article published on 01 December 2004

[Cerebellar atrophy following acute Mycoplasma pneumoniae cerebellitis]

scientific article published on 01 April 2006

[Classification of idiopathic generalised epilepsies in patients over 16 years of age]

scientific article published on 01 January 2017

[Clinical variability of polymicrogiria: report of 35 new cases and review of the literature]

scientific article published on 01 September 2012

[Cost-effectiveness of buccal midazolam in the treatment of prolonged convulsive seizures in the outpatient setting in Spain]

scientific article published in June 2014

[Epilepsy and hair alterations in a neonate]

scientific article published on 01 October 2005

[Gelastic seizures and low-grade hypothalamic astrocytoma]

scientific article published in September 2006

[Management of prolonged convulsive seizures in the community: results of the PERFECT™ study in Spain]

scientific article published on 26 November 2013

[Private mutations in the myophosphorylase gene: the first case in a patient of Latin American descent]

scientific article published on 01 September 2007

[Reversible encephalopathy caused by valproic acid in an adolescent with idiopathic generalised epilepsy]

scientific article published on 01 December 2012

[Use of benzodiazepines in prolonged seizures and status epilepticus in the community]

scientific article published on 04 November 2014

Paulina is supported by:

About Paulina

Help