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WES in nonprogressive congenital ataxia: Diagnostic yield and identification of novel loci

European journal of paediatric neurology, 2017-06, Vol.21, p.e219-e220

2017

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PP01.10 – 3014: GABRA1 neonatal encephalopathy: a clinical, genetic and pathological study

European journal of paediatric neurology, 2015-05, Vol.19, p.S31-S31

2015

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PP01.2 – 2772: Whole exome sequencing in 41 cases of early-onset epileptic encephalopathy

European journal of paediatric neurology, 2015-05, Vol.19, p.S29-S29

2015

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PP07.10 – 2874: Frequency of ambulance use and hospital admission following prolonged acute convulsive seizures in a European survey of children with epilepsy

European journal of paediatric neurology, 2015-05, Vol.19, p.S58-S58

2015

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PP07.13 – 2777: Disease characteristics and learning disabilities in a European survey of children with epilepsy who experience prolonged acute convulsive seizures

European journal of paediatric neurology, 2015-05, Vol.19, p.S59-S59

2015

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P46 – 2873: Frequency of rescue medication administration and its effect on seizure duration in a European survey of children with epilepsy who experience prolonged acute convulsive seizures

European journal of paediatric neurology, 2015-05, Vol.19, p.S107-S107

2015

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

Anales de pediatría (Barcelona, Spain : 2003), 2014-08, Vol.81 (2), p.99-106

2014

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Manejo de la crisis convulsiva prolongada en la comunidad: resultados del estudio PERFECT en España

Anales de pediatría (Barcelona, Spain : 2003), 2014-08, Vol.81 (2), p.99-106

2014

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

Anales de pediatría (Barcelona, Spain : 2003), 2014-12, Vol.81 (6), p.400.e1-400.e6

2014

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Uso benzodiacepinas en crisis prolongadas y estado epiléptico en la comunidad

Anales de pediatría (Barcelona, Spain : 2003), 2014-12, Vol.81 (6), p.400.e1-400.e6

2014

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

Revista de neurologiá, 2017-01, Vol.64 (2), p.49-54

2017

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Gelastic seizures and low-grade hypothalamic astrocytoma

Revista de neurologiá, 2006-09, Vol.43 (5), p.312

2006

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

Revista de neurologiá, 2007-09, Vol.45 (5), p.280-283

2007

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

Lancet neurology, 2008, Vol.7 (1), p.57-69

2008

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G97 Seizure duration with and without rescue medication in a European survey of children who experience prolonged acute convulsive seizures

Archives of disease in childhood, 2016-04, Vol.101 (Suppl 1), p.A56-A57

2016

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Panencefalitis esclerosante subaguda: tratamiento combinado con interferón alfa y ribavirina intraventricular

Revista de neurologiá, 2006, Vol.42 (5), p.277

2006

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Mutaciones privadas en el gen de la miofosforilasa: primer caso en un paciente de origen latinoamericano

Revista de neurologiá, 2007, Vol.45 (5), p.280

2007

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Paciente con lesión bilateral del estriado y distonía lentamente progresiva secundarias a la mutación T14487C en el gen ND6 del complejo I de la cadena respiratoria mitocondrial

Revista de neurologiá, 2004-12, Vol.39 (12), p.1129

2004

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Insensibilidad congénita al dolor con anhidrosis asociada a síndrome miasténico congénito

Revista de neurologiá, 2005, Vol.41 (4), p.218

2005

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Management of prolonged convulsive seizures in the community: Results of the PERFECT™ study in Spain

Anales de Pediatría, 2014-08, Vol.81 (2), p.99-106

2014

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Cerebellar atrophy following acute Mycoplasma pneumoniae cerebellitis

Revista de neurologiá, 2006-04, Vol.42 (8), p.466-470

2006

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

Revista de neurologiá, 2006-03, Vol.42 (5), p.277-281

2006

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Epilepsy and hair alterations in a neonate

Anales de pediatría (Barcelona, Spain : 2003), 2005-10, Vol.63 (4), p.383-384

2005

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Congenital insensitivity to pain with anhidrosis associated with congenital myasthenic syndrome

Revista de neurologiá, 2005-08, Vol.41 (4), p.218-222

2005

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WES in nonprogressive congenital ataxia: Diagnostic yield and identification of novel loci

PP01.10 – 3014: GABRA1 neonatal encephalopathy: a clinical, genetic and pathological study

PP01.2 – 2772: Whole exome sequencing in 41 cases of early-onset epileptic encephalopathy

PP07.10 – 2874: Frequency of ambulance use and hospital admission following prolonged acute convulsive seizures in a European survey of children with epilepsy

PP07.13 – 2777: Disease characteristics and learning disabilities in a European survey of children with epilepsy who experience prolonged acute convulsive seizures

P46 – 2873: Frequency of rescue medication administration and its effect on seizure duration in a European survey of children with epilepsy who experience prolonged acute convulsive seizures

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

Manejo de la crisis convulsiva prolongada en la comunidad: resultados del estudio PERFECT en España

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

Uso benzodiacepinas en crisis prolongadas y estado epiléptico en la comunidad

Thirteen New Patients with Guanidinoacetate Methyltransferase Deficiency and Functional Characterization of Nineteen Novel Missense Variants in the GAMT Gene

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

Gelastic seizures and low-grade hypothalamic astrocytoma

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

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

G97 Seizure duration with and without rescue medication in a European survey of children who experience prolonged acute convulsive seizures

Panencefalitis esclerosante subaguda: tratamiento combinado con interferón alfa y ribavirina intraventricular

Mutaciones privadas en el gen de la miofosforilasa: primer caso en un paciente de origen latinoamericano

Paciente con lesión bilateral del estriado y distonía lentamente progresiva secundarias a la mutación T14487C en el gen ND6 del complejo I de la cadena respiratoria mitocondrial

Insensibilidad congénita al dolor con anhidrosis asociada a síndrome miasténico congénito

Management of prolonged convulsive seizures in the community: Results of the PERFECT™ study in Spain

Cerebellar atrophy following acute Mycoplasma pneumoniae cerebellitis

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

Epilepsy and hair alterations in a neonate

Congenital insensitivity to pain with anhidrosis associated with congenital myasthenic syndrome

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