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Detection of copy number variations in epilepsy using exome data

Clinical genetics, 2018-03, Vol.93 (3), p.577-587

2018

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Multicenter long-term follow-up of children with idiopathic West syndrome: ACTH versus vigabatrin

European journal of neurology, 2009-04, Vol.16 (4), p.482-487

2009

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Neuropsychological aspects of benign childhood epilepsy with centrotemporal spikes

Seizure (London, England), 2010-01, Vol.19 (1), p.12-16

2010

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P757: Hyperventilation during routine EEG recording: are “3 minutes” really necessary?

Clinical neurophysiology, 2014-06, Vol.125, p.S250-S250

2014

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Epilepsy in children with infantile thiamine deficiency

Neurology, 2009-09, Vol.73 (11), p.828-833

2009

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Multicenter long-term follow-up of children with idiopathic West syndrome: ACTH versus vigabatrin - CME questions

European journal of neurology, 2009-05, Vol.16 (5), p.555-555

2009

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OP14 – 2647: RARS2 mutations cause early onset epileptic encephalopathy without ponto-cerebellar hypoplasia

European journal of paediatric neurology, 2015-05, Vol.19, p.S5-S5

2015

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PRRT2 Mutations Cause Benign Familial Infantile Epilepsy and Infantile Convulsions with Choreoathetosis Syndrome

American journal of human genetics, 2012-01, Vol.90 (1), p.152-160

2012

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P03-546 - A 9-year-old boy with acute psychosis and non-convulsive status epilepticus

European psychiatry, 2011, Vol.26, p.1716-1716

2011

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PRRT2 phenotypic spectrum includes sporadic and fever-related infantile seizures

Neurology, 2012-11, Vol.79 (21), p.2104-2108

2012

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Erratum to: “Neuropsychological aspects of benign childhood epilepsy with centrotemporal spikes” [Seizure: European Journal of Epilepsy 19 (2010) 12–16]

Seizure (London, England), 2010-04, Vol.19 (3), p.202-203

2010

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Genotype-phenotype analysis of human frontoparietal polymicrogyria syndromes

Annals of neurology, 2005-11, Vol.58 (5), p.680-687

2005

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Antibodies to glutamate receptor subtype 3 (GluR3) are found in some patients suffering from epilepsy as the main disease, but not in patients whose epilepsy accompanies antiphospholipid syndrome or Sneddon's syndrome

Autoimmunity (Chur, Switzerland), 2005-09, Vol.38 (6), p.417-424

2005

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ESP012 Normal MRI West syndrome cases: therapy type and diagnostic delay as prognostic factors

European journal of paediatric neurology, 2007, Vol.11, p.63-63

2007

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Autoimmune epilepsy: Distinct subpopulations of epilepsy patients harbor serum autoantibodies to either glutamate/AMPA receptor GluR3, glutamate/NMDA receptor subunit NR2A or double-stranded DNA

Epilepsy research, 2005-06, Vol.65 (1), p.11-22

2005

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Progressive spinocerebellar degeneration "plus" associated with Langerhans cell histiocytosis: a new paraneoplastic syndrome?

Journal of neurology, neurosurgery and psychiatry, 1995-02, Vol.58 (2), p.180-183

1995

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Antibodies from ALS patients inhibit dopamine release mediated by L-type calcium channels

Neurology, 1998-10, Vol.51 (4), p.1100-1103

1998

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Severe Refractory Status Epilepticus Owing to Presumed Encephalitis

Journal of child neurology, 2005-03, Vol.20 (3), p.184-187

2005

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Parry-Romberg syndrome : follow-up imaging during suppressive therapy

Neuroradiology, 1997-12, Vol.39 (12), p.873-876

1997

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Language dysfunction after frontal lobe partial seizures

Neurology, 2004-05, Vol.62 (9), p.1637-1638

2004

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Seizure frequency and characteristics in children with Down syndrome

Brain & development (Tokyo. 1979), 2001-10, Vol.23 (6), p.375-378

2001

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Ictus emeticus (ictal vomiting)

Pediatric neurology, 2004-10, Vol.31 (4), p.283-286

2004

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GnRH agonist treatment in girls with precocious puberty does not compromise post-pubertal uterine size

Human reproduction (Oxford), 2007-03, Vol.22 (3), p.895-900

2007

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Machado-Joseph (Azorean) disease in a Yemenite Jewish family in Israel

Neurology, 1994-07, Vol.44 (7), p.1298-1298

1994

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Abnormal evoked potentials in Miller-Fisher syndrome: further evidence of combined peripheral and central demyelination

Journal of neurology, neurosurgery and psychiatry, 1994-04, Vol.57 (4), p.506-506

1994

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Detection of copy number variations in epilepsy using exome data

Multicenter long-term follow-up of children with idiopathic West syndrome: ACTH versus vigabatrin

Neuropsychological aspects of benign childhood epilepsy with centrotemporal spikes

P757: Hyperventilation during routine EEG recording: are “3 minutes” really necessary?

Epilepsy in children with infantile thiamine deficiency

Multicenter long-term follow-up of children with idiopathic West syndrome: ACTH versus vigabatrin - CME questions

OP14 – 2647: RARS2 mutations cause early onset epileptic encephalopathy without ponto-cerebellar hypoplasia

PRRT2 Mutations Cause Benign Familial Infantile Epilepsy and Infantile Convulsions with Choreoathetosis Syndrome

P03-546 - A 9-year-old boy with acute psychosis and non-convulsive status epilepticus

PRRT2 phenotypic spectrum includes sporadic and fever-related infantile seizures

Erratum to: “Neuropsychological aspects of benign childhood epilepsy with centrotemporal spikes” [Seizure: European Journal of Epilepsy 19 (2010) 12–16]

Genotype-phenotype analysis of human frontoparietal polymicrogyria syndromes

Antibodies to glutamate receptor subtype 3 (GluR3) are found in some patients suffering from epilepsy as the main disease, but not in patients whose epilepsy accompanies antiphospholipid syndrome or Sneddon's syndrome

ESP012 Normal MRI West syndrome cases: therapy type and diagnostic delay as prognostic factors

Autoimmune epilepsy: Distinct subpopulations of epilepsy patients harbor serum autoantibodies to either glutamate/AMPA receptor GluR3, glutamate/NMDA receptor subunit NR2A or double-stranded DNA

Progressive spinocerebellar degeneration "plus" associated with Langerhans cell histiocytosis: a new paraneoplastic syndrome?

Antibodies from ALS patients inhibit dopamine release mediated by L-type calcium channels

Severe Refractory Status Epilepticus Owing to Presumed Encephalitis

Parry-Romberg syndrome : follow-up imaging during suppressive therapy

Language dysfunction after frontal lobe partial seizures

Seizure frequency and characteristics in children with Down syndrome

Ictus emeticus (ictal vomiting)

GnRH agonist treatment in girls with precocious puberty does not compromise post-pubertal uterine size

Machado-Joseph (Azorean) disease in a Yemenite Jewish family in Israel

Abnormal evoked potentials in Miller-Fisher syndrome: further evidence of combined peripheral and central demyelination

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