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 …
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 …
(CDKL5/STK9) gene caused mental retardation and severe neurological symptoms in two …
Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker–Warburg syndrome
The hypoglycosylation of o-dystroglycan is a new disease mechanism recently identified in
four congenital muscular dystrophies (CMDs): Walker–Warburg syndrome (WWS), muscle …
four congenital muscular dystrophies (CMDs): Walker–Warburg syndrome (WWS), muscle …
[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 …
hereditary leukoencephalopathy that was originally identified by MRI pattern analysis, and it …
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 …
pathogen detection in cerebrospinal fluid fails. This retrospective multicenter case series …
The clinical outcomes of neonatal and childhood stroke: review of the literature and implications for future research
C Härtel, S Schilling, J Sperner… - European Journal of …, 2004 - Wiley Online Library
A detailed assessment of clinical outcomes after ischemic stroke in childhood is necessary
to evaluate prognostic factors. Previous studies are difficult to compare because of …
to evaluate prognostic factors. Previous studies are difficult to compare because of …
[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 …
contractions and sustained twisting and repetitive movements and has recently been …
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 …
considerable problem in child neurology. The purpose of our ongoing study of the subject …
[HTML][HTML] FLIP&FLAP—a training programme for children and adolescents with epilepsy, and their parents
…, F Aksu, B Püst, B Kohl, A Redlich, J Sperner… - Seizure, 2009 - Elsevier
OBJECTIVE: The objective of this article is to present the development, contents and efficacy
of the FLIP&FLAP programme for children and adolescents with epilepsy, and their parents …
of the FLIP&FLAP programme for children and adolescents with epilepsy, and their parents …
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 …
syndromes ranging from benign rolandic epilepsy to more severe seizure disorders …