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The spectrum of intermediate SCN8A‐related epilepsy

Epilepsia (Copenhagen), 2019-05, Vol.60 (5), p.830-844

2019

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Genome-wide copy number variation in epilepsy: novel susceptibility loci in idiopathic generalized and focal epilepsies

PLoS genetics, 2010-05, Vol.6 (5), p.e1000962-e1000962

2010

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Critical incidents, nocturnal supervision, and caregiver knowledge on SUDEP in patients with Dravet syndrome: A prospective multicenter study in Germany

Epilepsia (Copenhagen), 2024-01, Vol.65 (1), p.115-126

2024

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Genetic determinants of common epilepsies: a meta-analysis of genome-wide association studies

Lancet neurology, 2014-09, Vol.13 (9), p.893-903

Anon

2014

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L-Serine Treatment is Associated with Improvements in Behavior, EEG, and Seizure Frequency in Individuals with GRIN-Related Disorders Due to Null Variants

Neurotherapeutics, 2022, Vol.19 (1), p.334-341

2022

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De Novo Loss-of-Function Mutations in CHD2 Cause a Fever-Sensitive Myoclonic Epileptic Encephalopathy Sharing Features with Dravet Syndrome

American journal of human genetics, 2013-11, Vol.93 (5), p.967-975

2013

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Diagnostic implications of genetic copy number variation in epilepsy plus

Epilepsia (Copenhagen), 2019-04, Vol.60 (4), p.689-706

2019

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In response: Neuronal networks in epileptic encephalopathies with CSWS

Epilepsia (Copenhagen), 2017-07, Vol.58 (7), p.1297-1298

2017

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Biallelic VARS variants cause developmental encephalopathy with microcephaly that is recapitulated in vars knockout zebrafish

Nature communications, 2019-02, Vol.10 (1), p.708-708, Article 708

2019

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Neuronal networks in epileptic encephalopathies with CSWS

Epilepsia (Copenhagen), 2016-08, Vol.57 (8), p.1245-1255

2016

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Aberrant Inclusion of a Poison Exon Causes Dravet Syndrome and Related SCN1A-Associated Genetic Epilepsies

American journal of human genetics, 2018-12, Vol.103 (6), p.1022-1029

2018

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Zonisamide‐responsive myoclonus in SEMA6B‐associated progressive myoclonic epilepsy

Annals of clinical and translational neurology, 2021-07, Vol.8 (7), p.1524-1527

2021

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Reduction of seizure frequency after epilepsy surgery in a patient with STXBP1 encephalopathy and clinical description of six novel mutation carriers

Epilepsia (Copenhagen), 2013-05, Vol.54 (5), p.e74-e80

2013

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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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Semantic Similarity Analysis Reveals Robust Gene-Disease Relationships in Developmental and Epileptic Encephalopathies

American journal of human genetics, 2020-10, Vol.107 (4), p.683-697

2020

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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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Bi-allelic GAD1 variants cause a neonatal onset syndromic developmental and epileptic encephalopathy

Brain (London, England : 1878), 2020-05, Vol.143 (5), p.1447-1461

2020

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Sleep quality, anxiety, symptoms of depression, and caregiver burden among those caring for patients with Dravet syndrome: a prospective multicenter study in Germany

Orphanet journal of rare diseases, 2023-04, Vol.18 (1), p.98-98, Article 98

2023

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Therapie des Dravet-Syndroms

Clinical Epileptology, 2019-05, Vol.32 (2), p.107-115

2019

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Mobile Apps und Internetanwendungen zur Unterstützung von Versorgung und Dokumentation bei Epilepsie

Clinical Epileptology, 2021-08, Vol.34 (3), p.277-283

2021

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The spectrum of intermediate SCN8A‐related epilepsy

Genome-wide copy number variation in epilepsy: novel susceptibility loci in idiopathic generalized and focal epilepsies

Critical incidents, nocturnal supervision, and caregiver knowledge on SUDEP in patients with Dravet syndrome: A prospective multicenter study in Germany

The role of SLC2A1 mutations in myoclonic astatic epilepsy and absence epilepsy, and the estimated frequency of GLUT1 deficiency syndrome

Genetic determinants of common epilepsies: a meta-analysis of genome-wide association studies

L-Serine Treatment is Associated with Improvements in Behavior, EEG, and Seizure Frequency in Individuals with GRIN-Related Disorders Due to Null Variants

De Novo Loss-of-Function Mutations in CHD2 Cause a Fever-Sensitive Myoclonic Epileptic Encephalopathy Sharing Features with Dravet Syndrome

Diagnostic implications of genetic copy number variation in epilepsy plus

In response: Neuronal networks in epileptic encephalopathies with CSWS

Biallelic VARS variants cause developmental encephalopathy with microcephaly that is recapitulated in vars knockout zebrafish

DNM1 encephalopathy: A new disease of vesicle fission

Neuronal networks in epileptic encephalopathies with CSWS

Aberrant Inclusion of a Poison Exon Causes Dravet Syndrome and Related SCN1A-Associated Genetic Epilepsies

Zonisamide‐responsive myoclonus in SEMA6B‐associated progressive myoclonic epilepsy

Reduction of seizure frequency after epilepsy surgery in a patient with STXBP1 encephalopathy and clinical description of six novel mutation carriers

Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes

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

Semantic Similarity Analysis Reveals Robust Gene-Disease Relationships in Developmental and Epileptic Encephalopathies

Corticosteroids versus clobazam for treatment of children with epileptic encephalopathy with spike-wave activation in sleep (RESCUE ESES): a multicentre randomised controlled trial

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

A multicenter, matched case‐control analysis comparing burden‐of‐illness in Dravet syndrome to refractory epilepsy and seizure remission in patients and caregivers in Germany

Bi-allelic GAD1 variants cause a neonatal onset syndromic developmental and epileptic encephalopathy

Sleep quality, anxiety, symptoms of depression, and caregiver burden among those caring for patients with Dravet syndrome: a prospective multicenter study in Germany

Therapie des Dravet-Syndroms

Mobile Apps und Internetanwendungen zur Unterstützung von Versorgung und Dokumentation bei Epilepsie

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