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Mutations in PMPCB Encoding the Catalytic Subunit of the Mitochondrial Presequence Protease Cause Neurodegeneration in Early Childhood

American journal of human genetics, 2018-04, Vol.102 (4), p.557-573

2018

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Changes in activity of striato–thalamo–cortical network precede generalized spike wave discharges

NeuroImage (Orlando, Fla.), 2008-02, Vol.39 (4), p.1839-1849

2008

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Seizure and cognitive outcomes of epilepsy surgery in infancy and early childhood

European journal of paediatric neurology, 2013-09, Vol.17 (5), p.498-506

2013

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Recessive loss-of-function mutations in AP4S1 cause mild fever-sensitive seizures, developmental delay and spastic paraplegia through loss of AP-4 complex assembly

Human molecular genetics, 2015-04, Vol.24 (8), p.2218-2227

2015

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EEG‐fMRI in atypical benign partial epilepsy

Epilepsia (Copenhagen), 2013-08, Vol.54 (8), p.e103-e108

2013

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Febrile infection-related epilepsy syndrome without detectable autoantibodies and response to immunotherapy: a case series and discussion of epileptogenesis in FIRES

Neuropediatrics, 2012-08, Vol.43 (4), p.209-216

2012

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A retrospective study of the relation between vaccination and occurrence of seizures in Dravet syndrome

Epilepsia (Copenhagen), 2011-01, Vol.52 (1), p.175-178

2011

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Abnormal response of motor cortex to photic stimulation in idiopathic generalized epilepsy

Epilepsia (Copenhagen), 2008-12, Vol.49 (12), p.2022-2029

2008

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Autosomal Dominant Lateral Temporal Epilepsy: Clinical Spectrum, New Epitempin Mutations, and Genetic Heterogeneity in Seven European Families

Epilepsia (Copenhagen), 2003-10, Vol.44 (10), p.1289-1297

2003

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A single dose of sulthiame induces a selective increase in resting motor threshold in human motor cortex: A transcranial magnetic stimulation study

Epilepsy research, 2006-11, Vol.72 (1), p.18-24

2006

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Benign Familial Infantile Convulsions: Linkage to Chromosome 16p12‐q12 in 14 Families

Epilepsia (Copenhagen), 2004-06, Vol.45 (6), p.601-609

2004

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Genome-wide mega-analysis identifies 16 loci and highlights diverse biological mechanisms in the common epilepsies

Nature communications, 2018-12, Vol.9 (1), p.5269-15, Article 5269

2018

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De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies

American journal of human genetics, 2014-10, Vol.95 (4), p.360-370

2014

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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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A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy

American journal of human genetics, 2019-06, Vol.104 (6), p.1060-1072

2019

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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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Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies

Brain (London, England : 1878), 2010-01, Vol.133 (1), p.23-32

2010

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Established Status Epilepticus Treatment Trial (ESETT)

Epilepsia (Copenhagen), 2011-10, Vol.52 (s8), p.50-52

Cock, Hannah R.

2011

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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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Mutations in PMPCB Encoding the Catalytic Subunit of the Mitochondrial Presequence Protease Cause Neurodegeneration in Early Childhood

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

Changes in activity of striato–thalamo–cortical network precede generalized spike wave discharges

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

Seizure and cognitive outcomes of epilepsy surgery in infancy and early childhood

Recessive loss-of-function mutations in AP4S1 cause mild fever-sensitive seizures, developmental delay and spastic paraplegia through loss of AP-4 complex assembly

PRRT2 Mutations are the major cause of benign familial infantile seizures

EEG‐fMRI in atypical benign partial epilepsy

Febrile infection-related epilepsy syndrome without detectable autoantibodies and response to immunotherapy: a case series and discussion of epileptogenesis in FIRES

A retrospective study of the relation between vaccination and occurrence of seizures in Dravet syndrome

Abnormal response of motor cortex to photic stimulation in idiopathic generalized epilepsy

Autosomal Dominant Lateral Temporal Epilepsy: Clinical Spectrum, New Epitempin Mutations, and Genetic Heterogeneity in Seven European Families

A single dose of sulthiame induces a selective increase in resting motor threshold in human motor cortex: A transcranial magnetic stimulation study

Benign Familial Infantile Convulsions: Linkage to Chromosome 16p12‐q12 in 14 Families

Genome-wide mega-analysis identifies 16 loci and highlights diverse biological mechanisms in the common epilepsies

De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies

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

De novo mutations in HCN1 cause early infantile epileptic encephalopathy

A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy

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

Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies

Established Status Epilepticus Treatment Trial (ESETT)

Gene family information facilitates variant interpretation and identification of disease-associated genes in neurodevelopmental disorders

16p11.2 600 kb Duplications confer risk for typical and atypical Rolandic epilepsy

Exon‐disrupting deletions of NRXN1 in idiopathic generalized epilepsy

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