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Influence of contraindicated medication use on cognitive outcome in Dravet syndrome and age at first afebrile seizure as a clinical predictor in SCN1A‐related seizure phenotypes

Epilepsia (Copenhagen), 2018-06, Vol.59 (6), p.1154-1165

2018

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Neonatal nonepileptic myoclonus is a prominent clinical feature of KCNQ2 gain‐of‐function variants R201C and R201H

Epilepsia (Copenhagen), 2017-03, Vol.58 (3), p.436-445

2017

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Late onset autism and anti-NMDA-receptor encephalitis

The Lancet (British edition), 2011-07, Vol.378 (9785), p.98-98

2011

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Child neurology: benign nocturnal alternating hemiplegia of childhood

Neurology, 2012-10, Vol.79 (18), p.e161

2012

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Anterior Opercular Syndrome as a First Presentation of Herpes Simplex Encephalitis

Journal of child neurology, 2014-04, Vol.29 (4), p.560-563

2014

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Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia

Nature genetics, 2017-02, Vol.49 (2), p.223-237

2017

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De novo gain-of-function and loss-of-function mutations of SCN8A in patients with intellectual disabilities and epilepsy

Journal of medical genetics, 2015-05, Vol.52 (5), p.330-337

2015

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Diagnostic exome sequencing in 100 consecutive patients with both epilepsy and intellectual disability

Epilepsia (Copenhagen), 2019-01, Vol.60 (1), p.155-164

2019

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The pathophysiological mechanisms of cognitive and behavioral disturbances in children with Landau–Kleffner syndrome or epilepsy with continuous spike-and-waves during slow-wave sleep

Seizure (London, England), 2006-06, Vol.15 (4), p.249-258

2006

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Missense Variants in RHOBTB2 Cause a Developmental and Epileptic Encephalopathy in Humans, and Altered Levels Cause Neurological Defects in Drosophila

American journal of human genetics, 2018-01, Vol.102 (1), p.44-57

2018

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The expanding clinical and genetic spectrum of DYNC1H1 -related disorders

Brain (London, England : 1878), 2024-06

2024

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Remarkable Phenytoin Sensitivity in 4 Children with SCN8A-related Epilepsy: A Molecular Neuropharmacological Approach

Neurotherapeutics, 2016-01, Vol.13 (1), p.192-197

2016

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New-Onset Seizures: A Possible Association With Clonidine?

Pediatric neurology, 2008-02, Vol.38 (2), p.147-149

2008

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Outcomes and comorbidities of SCN1A-related seizure disorders

Epilepsy & behavior, 2019-01, Vol.90, p.252-259

2019

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SMDT1 variants impair EMRE-mediated mitochondrial calcium uptake in patients with muscle involvement

Biochimica et biophysica acta. Molecular basis of disease, 2023-12, Vol.1869 (8), p.166808-166808, Article 166808

2023

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Inverted Fixation-Off Sensitivity in Atypical Benign Partial Epilepsy

Pediatric neurology, 2008-04, Vol.38 (4), p.279-283

2008

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Biallelic variants in PIGN cause Fryns syndrome, multiple congenital anomalies-hypotonia-seizures syndrome, and neurologic phenotypes: A genotype–phenotype correlation study

Genetics in medicine, 2023-01, Vol.25 (1), p.37-48

2023

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Acute flaccid myelitis and Guillain–Barré syndrome in children: A comparative study with evaluation of diagnostic criteria

European journal of neurology, 2022-02, Vol.29 (2), p.593-604

2022

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Teaching NeuroImages: White matter hypomyelination and progressive calcifications in cerebral folate deficiency

Neurology, 2016-07, Vol.87 (1), p.e4

2016

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Pediatric delirium in critical illness : phenomenology, clinical correlates and treatment response in 40 cases in the pediatric intensive care unit

Intensive care medicine, 2007-06, Vol.33 (6), p.1033-1040

2007

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The cognitive effects of interictal epileptiform EEG discharges and short nonconvulsive epileptic seizures

Epilepsia (Copenhagen), 2012-06, Vol.53 (6), p.1051-1059

2012

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Influence of contraindicated medication use on cognitive outcome in Dravet syndrome and age at first afebrile seizure as a clinical predictor in SCN 1A ‐related seizure phenotypes

Epilepsia (Copenhagen), 2018-06, Vol.59 (6), p.1154-1165

2018

Volltextzugriff (PDF)

Anti-GAD antibodies in a cohort of neuropsychiatric patients

Epilepsy & behavior, 2018-05, Vol.82, p.25-28

2018

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Influence of contraindicated medication use on cognitive outcome in Dravet syndrome and age at first afebrile seizure as a clinical predictor in SCN1A‐related seizure phenotypes

Neonatal nonepileptic myoclonus is a prominent clinical feature of KCNQ2 gain‐of‐function variants R201C and R201H

De Novo Mutations in the Motor Domain of KIF1A Cause Cognitive Impairment, Spastic Paraparesis, Axonal Neuropathy, and Cerebellar Atrophy

Late onset autism and anti-NMDA-receptor encephalitis

Child neurology: benign nocturnal alternating hemiplegia of childhood

Anterior Opercular Syndrome as a First Presentation of Herpes Simplex Encephalitis

Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia

De novo gain-of-function and loss-of-function mutations of SCN8A in patients with intellectual disabilities and epilepsy

Diagnostic exome sequencing in 100 consecutive patients with both epilepsy and intellectual disability

The pathophysiological mechanisms of cognitive and behavioral disturbances in children with Landau–Kleffner syndrome or epilepsy with continuous spike-and-waves during slow-wave sleep

Missense Variants in RHOBTB2 Cause a Developmental and Epileptic Encephalopathy in Humans, and Altered Levels Cause Neurological Defects in Drosophila

The expanding clinical and genetic spectrum of DYNC1H1 -related disorders

Remarkable Phenytoin Sensitivity in 4 Children with SCN8A-related Epilepsy: A Molecular Neuropharmacological Approach

New-Onset Seizures: A Possible Association With Clonidine?

Outcomes and comorbidities of SCN1A-related seizure disorders

SMDT1 variants impair EMRE-mediated mitochondrial calcium uptake in patients with muscle involvement

Inverted Fixation-Off Sensitivity in Atypical Benign Partial Epilepsy

Biallelic variants in PIGN cause Fryns syndrome, multiple congenital anomalies-hypotonia-seizures syndrome, and neurologic phenotypes: A genotype–phenotype correlation study

Effectiveness of antiepileptic therapy in patients with PCDH19 mutations

Acute flaccid myelitis and Guillain–Barré syndrome in children: A comparative study with evaluation of diagnostic criteria

Teaching NeuroImages: White matter hypomyelination and progressive calcifications in cerebral folate deficiency

Pediatric delirium in critical illness : phenomenology, clinical correlates and treatment response in 40 cases in the pediatric intensive care unit

The cognitive effects of interictal epileptiform EEG discharges and short nonconvulsive epileptic seizures

Influence of contraindicated medication use on cognitive outcome in Dravet syndrome and age at first afebrile seizure as a clinical predictor in SCN 1A ‐related seizure phenotypes

Anti-GAD antibodies in a cohort of neuropsychiatric patients

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