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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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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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Folker Hanefeld, 1937-2022

European journal of paediatric neurology, 2022-07, Vol.39, p.A1-A2

2022

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FIRES: Febrile infection responsive epileptic (FIRE) encephalopathies of school age

Brain & development (Tokyo. 1979), 2009-01, Vol.31 (1), p.91-91

2009

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The Natural History of Myoclonic Astatic Epilepsy (Doose Syndrome) and Lennox‐Gastaut Syndrome

Epilepsia (Copenhagen), 2006-11, Vol.47 (s2), p.53-55

Stephani, Ulrich

2006

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Neuronal networks underlying ictal and subclinical discharges in childhood absence epilepsy

Journal of neurology, 2023-03, Vol.270 (3), p.1402-1415

2023

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Simultaneous EEG and fMRI recordings (EEG‐fMRI) in children with epilepsy

Epilepsia (Copenhagen), 2013-06, Vol.54 (6), p.971-982

2013

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Increased brain lactate during stroke-like episode in a patient with congenital disorder of glycosylation type Ia

Brain & development (Tokyo. 1979), 2009-02, Vol.31 (2), p.183-183

2009

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Efficacy and safety of corticosteroids and ACTH in epileptic syndromes beyond Infantile Epileptic Spasms Syndrome (IESS): A systematic review and meta‐analysis

Epilepsia (Copenhagen), 2024-05, Vol.65 (5), p.1155-1175

2024

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Fenfluramine for Treatment-Resistant Seizures in Patients With Dravet Syndrome Receiving Stiripentol-Inclusive Regimens: A Randomized Clinical Trial

JAMA neurology, 2020-03, Vol.77 (3), p.300

2020

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De novo variants in neurodevelopmental disorders with epilepsy

Nature genetics, 2018-07, Vol.50 (7), p.1048-1053

2018

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Fenfluramine hydrochloride for the treatment of seizures in Dravet syndrome: a randomised, double-blind, placebo-controlled trial

The Lancet (British edition), 2019-12, Vol.394 (10216), p.2243-2254

2019

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Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy

Journal of medical genetics, 2016-08, Vol.53 (8), p.511-522

2016

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Differentiating ictal/subclinical spikes and waves in childhood absence epilepsy by spectral and network analyses: A pilot study

Clinical neurophysiology, 2021-09, Vol.132 (9), p.2222-2231

2021

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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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The Spectrum from BCECTS to LKS: The Rolandic EEG Trait—Impact on Cognition

Epilepsia (Copenhagen), 2006-11, Vol.47 (s2), p.67-70

2006

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EEG-Findings during long-term treatment with everolimus in TSC-associated and therapy-resistant epilepsies in children

Seizure (London, England), 2022-12, Vol.103, p.101-107

2022

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

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

Folker Hanefeld, 1937-2022

FIRES: Febrile infection responsive epileptic (FIRE) encephalopathies of school age

The Natural History of Myoclonic Astatic Epilepsy (Doose Syndrome) and Lennox‐Gastaut Syndrome

Neuronal networks underlying ictal and subclinical discharges in childhood absence epilepsy

Simultaneous EEG and fMRI recordings (EEG‐fMRI) in children with epilepsy

Increased brain lactate during stroke-like episode in a patient with congenital disorder of glycosylation type Ia

Efficacy and safety of corticosteroids and ACTH in epileptic syndromes beyond Infantile Epileptic Spasms Syndrome (IESS): A systematic review and meta‐analysis

Fenfluramine for Treatment-Resistant Seizures in Patients With Dravet Syndrome Receiving Stiripentol-Inclusive Regimens: A Randomized Clinical Trial

De novo variants in neurodevelopmental disorders with epilepsy

Fenfluramine hydrochloride for the treatment of seizures in Dravet syndrome: a randomised, double-blind, placebo-controlled trial

Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy

Differentiating ictal/subclinical spikes and waves in childhood absence epilepsy by spectral and network analyses: A pilot study

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

The Spectrum from BCECTS to LKS: The Rolandic EEG Trait—Impact on Cognition

EEG-Findings during long-term treatment with everolimus in TSC-associated and therapy-resistant epilepsies in children

Abnormal changes of synaptic excitability in migraine with aura

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