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PRRT2 Mutations are the major cause of benign familial infantile seizures

Human mutation, 2012-10, Vol.33 (10), p.1439-1443

2012

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EEG-MEG Integration Enhances the Characterization of Functional and Effective Connectivity in the Resting State Network

PloS one, 2015-10, Vol.10 (10), p.e0140832-e0140832

2015

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Developmental outcomes in children/adolescents and one adult with tuberous sclerosis complex (TSC) and refractory epilepsy treated with everolimus

Epilepsy & behavior, 2020-10, Vol.111, p.107182-107182, Article 107182

2020

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Abnormal changes of synaptic excitability in migraine with aura

Cerebral cortex (New York, N.Y. 1991), 2012-10, Vol.22 (10), p.2207-2216

2012

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De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy

Nature genetics, 2015-04, Vol.47 (4), p.393-399

2015

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Long‐term seizure outcome in 211 patients with focal cortical dysplasia

Epilepsia (Copenhagen), 2015-01, Vol.56 (1), p.66-76

2015

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Satoyoshi syndrome: A rare multisystemic disorder requiring systemic and symptomatic treatment

Brain & development (Tokyo. 1979), 2006-06, Vol.28 (5), p.300-304

2006

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Evaluation of health-care utilization in patients with Dravet syndrome and on adjunctive treatment with stiripentol and clobazam

Epilepsy & behavior, 2014-05, Vol.34, p.86-91

2014

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Burden analysis of rare microdeletions suggests a strong impact of neurodevelopmental genes in genetic generalised epilepsies

PLoS genetics, 2015-05, Vol.11 (5), p.e1005226

2015

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CHD2 myoclonic encephalopathy is frequently associated with self-induced seizures

Neurology, 2015-03, Vol.84 (9), p.951

2015

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Non-response to antiepileptic pharmacotherapy is associated with the ABCC2 −24C>T polymorphism in young and adult patients with epilepsy

Pharmacogenetics and genomics, 2009-05, Vol.19 (5), p.353-362

2009

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Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screening

Molecular genetics and metabolism, 2014-03, Vol.111 (3), p.342-352

2014

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Investigating the genetic basis of fever‐associated syndromic epilepsies using copy number variation analysis

Epilepsia (Copenhagen), 2015-03, Vol.56 (3), p.e26-e32

2015

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Absence seizures with intellectual disability as a phenotype of the 15q13.3 microdeletion syndrome

Epilepsia (Copenhagen), 2011-12, Vol.52 (12), p.e194-e198

2011

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Variability of EEG‐fMRI findings in patients with SCN1A‐positive Dravet syndrome

Epilepsia (Copenhagen), 2013-05, Vol.54 (5), p.918-926

2013

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Exon‐disrupting deletions of NRXN1 in idiopathic generalized epilepsy

Epilepsia (Copenhagen), 2013-02, Vol.54 (2), p.256-264

2013

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Developmental changes of neuronal networks associated with strategic social decision-making

Neuropsychologia, 2014-04, Vol.56, p.37-46

2014

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Intravenous lacosamide in clinical practice–Results from an independent registry

Seizure (London, England), 2016-07, Vol.39, p.5-9

2016

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Altered cortical visual processing in individuals with a spreading photoparoxysmal EEG response

The European journal of neuroscience, 2007-07, Vol.26 (2), p.529-536

2007

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Clinical course and variability of non‐Rasmussen, nonstroke motor and sensory epilepsia partialis continua: A European survey and analysis of 65 cases

Epilepsia (Copenhagen), 2011-06, Vol.52 (6), p.1168-1176

2011

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Structural genomic variation in childhood epilepsies with complex phenotypes

European journal of human genetics : EJHG, 2014-07, Vol.22 (7), p.896-901

2014

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Decomposition of Neurological Multivariate Time Series by State Space Modelling

Bulletin of mathematical biology, 2011-02, Vol.73 (2), p.285-324

2011

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Nongenetic cause of epileptic seizures in 2 otherwise healthy Chinese families: tetramine--case presentation and literature survey

Clinical neuropharmacology, 2008-01, Vol.31 (1), p.57-61

2008

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Refinement of the MYP3 locus on human chromosome 12 in a German family with Mendelian autosomal dominant high-grade myopia by SNP array mapping

International journal of molecular medicine, 2008-04, Vol.21 (4), p.429-438

2008

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PRRT2 Mutations are the major cause of benign familial infantile seizures

EEG-MEG Integration Enhances the Characterization of Functional and Effective Connectivity in the Resting State Network

Developmental outcomes in children/adolescents and one adult with tuberous sclerosis complex (TSC) and refractory epilepsy treated with everolimus

Abnormal changes of synaptic excitability in migraine with aura

De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy

Long‐term seizure outcome in 211 patients with focal cortical dysplasia

Satoyoshi syndrome: A rare multisystemic disorder requiring systemic and symptomatic treatment

Evaluation of health-care utilization in patients with Dravet syndrome and on adjunctive treatment with stiripentol and clobazam

Burden analysis of rare microdeletions suggests a strong impact of neurodevelopmental genes in genetic generalised epilepsies

CHD2 myoclonic encephalopathy is frequently associated with self-induced seizures

De novo mutations of KIAA2022 in females cause intellectual disability and intractable epilepsy

Non-response to antiepileptic pharmacotherapy is associated with the ABCC2 −24C>T polymorphism in young and adult patients with epilepsy

Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screening

Investigating the genetic basis of fever‐associated syndromic epilepsies using copy number variation analysis

Absence seizures with intellectual disability as a phenotype of the 15q13.3 microdeletion syndrome

Variability of EEG‐fMRI findings in patients with SCN1A‐positive Dravet syndrome

Exon‐disrupting deletions of NRXN1 in idiopathic generalized epilepsy

Developmental changes of neuronal networks associated with strategic social decision-making

Intravenous lacosamide in clinical practice–Results from an independent registry

Altered cortical visual processing in individuals with a spreading photoparoxysmal EEG response

Clinical course and variability of non‐Rasmussen, nonstroke motor and sensory epilepsia partialis continua: A European survey and analysis of 65 cases

Structural genomic variation in childhood epilepsies with complex phenotypes

Decomposition of Neurological Multivariate Time Series by State Space Modelling

Nongenetic cause of epileptic seizures in 2 otherwise healthy Chinese families: tetramine--case presentation and literature survey

Refinement of the MYP3 locus on human chromosome 12 in a German family with Mendelian autosomal dominant high-grade myopia by SNP array mapping

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