Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes

…, A Hahn, DE Haberlandt, C Kutzer, J Sperner… - Nature …, 2013 - nature.com
Idiopathic focal epilepsy (IFE) with rolandic spikes is the most common childhood epilepsy,
comprising a phenotypic spectrum from rolandic epilepsy (also benign epilepsy with …

[PDF][PDF] Mutations in the X-linked cyclin-dependent kinase–like 5 (CDKL5/STK9) gene are associated with severe neurodevelopmental retardation

…, K Hoffmann, B Moser, M Raynaud, J Sperner… - The American Journal of …, 2004 - cell.com
Recently, we showed that truncation of the X-linked cyclin-dependent kinase–like 5 (CDKL5/STK9)
gene caused mental retardation and severe neurological symptoms in two female …

Febrile infection–related epilepsy syndrome (FIRES): a nonencephalitic encephalopathy in childhood

…, M Häusler, R Boor, A Rohr, J Sperner… - …, 2010 - Wiley Online Library
Encephalitis is generally presumed, even when seizures follow banal febrile infection, and
pathogen detection in cerebrospinal fluid fails. This retrospective multicenter case series …

[PDF][PDF] A de novo mutation in the β-tubulin gene TUBB4A results in the leukoencephalopathy hypomyelination with atrophy of the basal ganglia and cerebellum

…, R Van Coster, L Lagae, J Kisler, J Sperner… - The American Journal of …, 2013 - cell.com
Hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC) is a rare hereditary
leukoencephalopathy that was originally identified by MRI pattern analysis, and it has …

[PDF][PDF] Evidence that paternal expression of the ε-sarcoglycan gene accounts for reduced penetrance in myoclonus-dystonia

…, W Reik, E Schwinger, J Sperner… - The American Journal of …, 2002 - cell.com
Myoclonus-dystonia (MD) is a movement disorder characterized by rapid muscle contractions
and sustained twisting and repetitive movements and has recently been associated with …

New syndrome characterized by hypomyelination with atrophy of the basal ganglia and cerebellum

…, R Van Coster, L Lagae, J Sperner… - American journal …, 2002 - Am Soc Neuroradiology
BACKGROUND AND PURPOSE: Leukoencephalopathies of unknown origin constitute a
considerable problem in child neurology. The purpose of our ongoing study of the subject was …

Deletions in 16p13 including GRIN2A in patients with intellectual disability, various dysmorphic features, and seizure disorders of the rolandic region

…, K Finsterwalder, S Vermeer, R Pfundt, J Sperner… - …, 2010 - Wiley Online Library
Seizure disorders of the rolandic region comprise a spectrum of different epilepsy syndromes
ranging from benign rolandic epilepsy to more severe seizure disorders including atypical …

Operative and technical complications of vagus nerve stimulator implantation

…, A Sepehrnia, G Nowak, J Sperner - Operative …, 2010 - journals.lww.com
BACKGROUND: The treatment of refractory epilepsy by vagus nerve stimulation (VNS) is a
well-established therapy option for patients not suitable for epilepsy surgery and therapy …

Unmet health care needs and impact on families with children with disabilities in Germany

U Thyen, J Sperner, M Morfeld, C Meyer… - Ambulatory …, 2003 - Elsevier
Objectives.—We sought to determine the independent effect of unmet health needs on
family burden, in addition to the effects of functional impairment and parental care load, in …

Right-sided vagus nerve stimulation in humans: an effective therapy?

…, G Nowak, A Renneberg, V Tronnier, J Sperner - Epilepsy research, 2008 - Elsevier
Vagus nerve stimulation (VNS) is an additive treatment option for refractory epilepsy. The
electrode is placed on the cervical trunk of the left vagus nerve. In patients who are not suitable …