Miquel Chaure-Raspall

Barcelona, CT, Spain

Last Updated: 09/26/2026

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Found 24 publications

Biallelic PI4KA Mutations Disrupt B-Cell Metabolism and Cause B-Cell Lymphopenia and Hypogammaglobulinemia.

Biallelic PI4KA Mutations Disrupt B-Cell Metabolism and Cause B-Cell Lymphopenia and Hypogammaglobulinemia.

Journal: Journal of clinical immunology

Published: April 30, 2024

Loss of seryl-tRNA synthetase (SARS1) causes complex spastic paraplegia and cellular senescence.

Loss of seryl-tRNA synthetase (SARS1) causes complex spastic paraplegia and cellular senescence.

Journal: Journal of medical genetics

Published: March 01, 2022

Early-onset eyelid stereotypies are a frequent and distinctive feature in Dravet syndrome.

Early-onset eyelid stereotypies are a frequent and distinctive feature in Dravet syndrome.

Journal: Seizure

Published: June 01, 2021

Biallelic PI4KA variants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophy.

Biallelic PI4KA variants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophy.

Journal: Brain : a journal of neurology

Published: December 22, 2020

Clinical experience with brivaracetam in a series of 46 children.

Clinical experience with brivaracetam in a series of 46 children.

Journal: Epilepsy & behavior : E&B

Published: February 21, 2020

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

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

Journal: Epilepsy & behavior : E&B

Published: January 07, 2019

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

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

Journal: American journal of human genetics

Published: October 10, 2018

Novel GCH1 Compound Heterozygosity Mutation in Infancy-Onset Generalized Dystonia.

Novel GCH1 Compound Heterozygosity Mutation in Infancy-Onset Generalized Dystonia.

Journal: Neuropediatrics

Published: February 23, 2018

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

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

Journal: Epilepsia

Published: January 17, 2018

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

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

Journal: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society

Published: May 09, 2017

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

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

Journal: Revista de neurologia

Published: January 12, 2017

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

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

Journal: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society

Published: October 26, 2016

Showing 1-12 of 24

Last Updated: 09/26/2026