UB Paderborn / Katalog / Suche / in CDI

1 – 25 von 49

Sortiert nach

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

Volltextzugriff (PDF)

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

Volltextzugriff (PDF)

Dynamic imaging of coherent sources reveals different network connectivity underlying the generation and perpetuation of epileptic seizures

PloS one, 2013-10, Vol.8 (10), p.e78422-e78422

2013

Volltextzugriff (PDF)

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

Volltextzugriff (PDF)

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

Volltextzugriff (PDF)

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

Volltextzugriff (PDF)

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

Volltextzugriff (PDF)

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

Volltextzugriff (PDF)

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

Volltextzugriff (PDF)

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

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

2015

Volltextzugriff (PDF)

Phenotypic and genetic spectrum of epilepsy with myoclonic atonic seizures

Epilepsia (Copenhagen), 2020-05, Vol.61 (5), p.995-1007

2020

Volltextzugriff (PDF)

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

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

2015

Volltextzugriff (PDF)

Hemodynamic changes preceding the interictal EEG spike in patients with focal epilepsy investigated using simultaneous EEG-fMRI

NeuroImage (Orlando, Fla.), 2009-05, Vol.45 (4), p.1220-1231

2009

Volltextzugriff (PDF)

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

Volltextzugriff (PDF)

Costs of epilepsy and cost‐driving factors in children, adolescents, and their caregivers in Germany

Epilepsia (Copenhagen), 2015-09, Vol.56 (9), p.1388-1397

2015

Volltextzugriff (PDF)

Quality of life and correlating factors in children, adolescents with epilepsy, and their caregivers: A cross-sectional multicenter study from Germany

Seizure (London, England), 2019-07, Vol.69, p.92-98

2019

Volltextzugriff (PDF)

Neuronal networks in children with continuous spikes and waves during slow sleep

Brain (London, England : 1878), 2010-09, Vol.133 (9), p.2798-2813

2010

Volltextzugriff (PDF)

Effectiveness and tolerability of perampanel in children and adolescents with refractory epilepsies: first experiences

Neuropediatrics, 2015-04, Vol.46 (2), p.110

2015

Volltextzugriff (PDF)

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

Volltextzugriff (PDF)

Variability of the hemodynamic response as a function of age and frequency of epileptic discharge in children with epilepsy

NeuroImage (Orlando, Fla.), 2008-04, Vol.40 (2), p.601-614

2008

Volltextzugriff (PDF)

1 – 25 von 49

Suche als RSS-Feed

Aktive Filter

ThemaMedical Sciences

ThemaChild, Preschool

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(49)
Mit Volltextzugriff
(43)

Publikationsform

Artikel
(49)

Sprache

Erscheinungsjahr

n.n

Thema

14 weitere anzeigen...

Weniger anzeigen...

Menü

Weitere Dienste

Einstellungen

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

Dynamic imaging of coherent sources reveals different network connectivity underlying the generation and perpetuation of epileptic seizures

PRRT2 Mutations are the major cause of benign familial infantile seizures

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

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

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

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

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

The phenotypic spectrum of SCN8A encephalopathy

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

Phenotypic and genetic spectrum of epilepsy with myoclonic atonic seizures

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

De novo mutations in HCN1 cause early infantile epileptic encephalopathy

Hemodynamic changes preceding the interictal EEG spike in patients with focal epilepsy investigated using simultaneous EEG-fMRI

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

Costs of epilepsy and cost‐driving factors in children, adolescents, and their caregivers in Germany

Quality of life and correlating factors in children, adolescents with epilepsy, and their caregivers: A cross-sectional multicenter study from Germany

Neuronal networks in children with continuous spikes and waves during slow sleep

Effectiveness and tolerability of perampanel in children and adolescents with refractory epilepsies: first experiences

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

Variability of the hemodynamic response as a function of age and frequency of epileptic discharge in children with epilepsy

Aktive Filter

Suchergebnisse filtern