Lista de obras -

17q21.31 microdeletion syndrome: Description of a case further contributing to the delineation of Koolen-de Vries syndrome.

artículo científico publicado en 2016

A clinical and genetic study of 33 new cases with early-onset absence epilepsy

artículo científico publicado en 2011

A pilot open-label trial of zonisamide in Unverricht-Lundborg disease

artículo científico publicado en 2010

A pilot trial of levetiracetam in eyelid myoclonia with absences (Jeavons syndrome).

artículo científico publicado en 2008

Advances in genetic testing and optimization of clinical management in children and adults with epilepsy

artículo científico publicado en 2020

CHD2 mutations: Only epilepsy? Description of cognitive and behavioral profile in a case with a new mutation

artículo científico publicado en 2017

Clinical phenotype and molecular characterization of 6q terminal deletion syndrome: Five new cases.

artículo científico publicado en 2006

Clinical significance of rare copy number variations in epilepsy: a case-control survey using microarray-based comparative genomic hybridization

artículo científico publicado en 2011

Comparative effectiveness of antiepileptic drugs in patients with mesial temporal lobe epilepsy with hippocampal sclerosis

artículo científico

Diagnosis and Management of Type 1 Sialidosis: Clinical Insights from Long-Term Care of Four Unrelated Patients

artículo científico publicado en 2020

Diagnostic implications of genetic copy number variation in epilepsy plus

artículo científico publicado en 2019

Different electroclinical picture of generalized epilepsy in two families with 15q13.3 microdeletion

artículo científico publicado en 2013

Dissecting genetics of spectrum of epilepsies with eyelid myoclonia by exome sequencing

artículo científico publicado en 2023

Dramatic response to levetiracetam in post-ischaemic Holmes' tremor.

artículo científico publicado en 2009

Dramatic response to levetiracetam in post-ischaemic Holmes' tremor.

artículo científico publicado en 2007

Epileptic myoclonus as ciprofloxacin-associated adverse effect

scientific article published on 01 August 2007

Genome-wide linkage meta-analysis identifies susceptibility loci at 2q34 and 13q31.3 for genetic generalized epilepsies

article

Inherited neuromyotonia: a clinical and genetic study of a family

scientific article published on 30 November 2006

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

artículo científico publicado en 2019

Life-threatening status epilepticus following gabapentin administration in a patient with benign adult familial myoclonic epilepsy.

artículo científico publicado en 2007

Natural history and long-term evolution in families with autosomal dominant cortical tremor, myoclonus, and epilepsy.

artículo científico publicado en 2011

Neurological features and long-term follow-up in 15q11.2-13.1 duplication

artículo científico publicado en 2013

Psychiatric comorbidities in patients from seven families with autosomal dominant cortical tremor, myoclonus, and epilepsy

artículo científico publicado en 2016

Rare coding variants in genes encoding GABAA receptors in genetic generalised epilepsies: an exome-based case-control study

article

Reflex seizures and reflex epilepsies: Old models for understanding mechanisms of epileptogenesis ⬇️

artículo científico publicado el 22 de febrero de 2012

The spectrum of intermediate SCN8A-related epilepsy

scientific article published on 10 April 2019

Lista de obras de

17q21.31 microdeletion syndrome: Description of a case further contributing to the delineation of Koolen-de Vries syndrome.

A clinical and genetic study of 33 new cases with early-onset absence epilepsy

A pilot open-label trial of zonisamide in Unverricht-Lundborg disease

A pilot trial of levetiracetam in eyelid myoclonia with absences (Jeavons syndrome).

Advances in genetic testing and optimization of clinical management in children and adults with epilepsy

CHD2 mutations: Only epilepsy? Description of cognitive and behavioral profile in a case with a new mutation

Clinical phenotype and molecular characterization of 6q terminal deletion syndrome: Five new cases.

Clinical significance of rare copy number variations in epilepsy: a case-control survey using microarray-based comparative genomic hybridization

Comparative effectiveness of antiepileptic drugs in patients with mesial temporal lobe epilepsy with hippocampal sclerosis

Diagnosis and Management of Type 1 Sialidosis: Clinical Insights from Long-Term Care of Four Unrelated Patients

Diagnostic implications of genetic copy number variation in epilepsy plus

Different electroclinical picture of generalized epilepsy in two families with 15q13.3 microdeletion

Dissecting genetics of spectrum of epilepsies with eyelid myoclonia by exome sequencing

Dramatic response to levetiracetam in post-ischaemic Holmes' tremor.

Dramatic response to levetiracetam in post-ischaemic Holmes' tremor.

Epileptic myoclonus as ciprofloxacin-associated adverse effect

Genome-wide linkage meta-analysis identifies susceptibility loci at 2q34 and 13q31.3 for genetic generalized epilepsies

Inherited neuromyotonia: a clinical and genetic study of a family

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

Life-threatening status epilepticus following gabapentin administration in a patient with benign adult familial myoclonic epilepsy.

Natural history and long-term evolution in families with autosomal dominant cortical tremor, myoclonus, and epilepsy.

Neurological features and long-term follow-up in 15q11.2-13.1 duplication

Psychiatric comorbidities in patients from seven families with autosomal dominant cortical tremor, myoclonus, and epilepsy

Rare coding variants in genes encoding GABAA receptors in genetic generalised epilepsies: an exome-based case-control study

Reflex seizures and reflex epilepsies: Old models for understanding mechanisms of epileptogenesis ⬇️

The spectrum of intermediate SCN8A-related epilepsy