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Your search keyword '"Muhle, H"' showing total 14 results
Start Over Author "Muhle, H" Journal neuropediatrics
14 results on '"Muhle, H"'

1. Tonic Seizures As a Prognostic Factor for Seizure-Freedom and Development in Myoclonic Astatic Epilepsy

Author

von Spiczak, S., primary, Kleiss, R., additional, Vollrath, O., additional, Boor, R., additional, Muhle, H., additional, Jacobs-Le Van, J., additional, Bast, T., additional, Wolff, M., additional, Kluger, G., additional, Steinbeis-von Stülpnagel, C., additional, Spiegler, J., additional, Reutlinger, C., additional, Steiner, G., additional, Neubauer, B., additional, Møller, R., additional, Larsen, J., additional, Hjalgrim, H., additional, Stephani, U., additional, Hedderich, J., additional, and Helbig, I., additional

Published
2014
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2. De Novo SCN2A Mutations Cause Variable Phenotypes in Children with Epilepsy

Author

Wolff, M., primary, Bast, T., additional, Loddenkemper, T., additional, Jillella, D., additional, Döcker, M., additional, Wong-Kisiel, L., additional, Möller, R., additional, Weckhuysen, S., additional, Ceulemans, B., additional, Klepper, J., additional, Baumeister, F., additional, Finetti, C., additional, Kurlemann, G., additional, Muhle, H., additional, and Kluger, G., additional

Published
2014
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3. Clinical characterization of myoclonic-astatic epilepsy

Author

Kleiss, R, primary, Muhle, H, additional, Boor, R, additional, Bast, T, additional, Kluger, G, additional, Jacobs, J, additional, Wolff, M, additional, Steiner, G, additional, Reutlinger, C, additional, Spiegler, J, additional, Stephani, U, additional, Helbig, I, additional, and Spiczak, S von, additional

Published
2012
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12. Genomewide linkage scan of the photoparoxysmal response (PPR) and exploration of its relationship to Idiopathic Generalised Epilepsies (IGE)

Author

Tauer, U, primary, Lorenz, S, additional, Lenzen, K, additional, Heils, A, additional, Muhle, H, additional, Gresch, M, additional, Neubauer, B, additional, Waltz, S, additional, Rudolf, G, additional, Mattheisen, M, additional, Strauch, K, additional, Nürnberg, P, additional, Schmitz, B, additional, Sander, T, additional, and Stephani, U, additional

Published
2005
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13. Whole-Exome Sequencing in NF1-Related West Syndrome Leads to the Identification of KCNC2 as a Novel Candidate Gene for Epilepsy.

Author

Rademacher A, Schwarz N, Seiffert S, Pendziwiat M, Rohr A, van Baalen A, Helbig I, Weber Y, and Muhle H

Subjects
Comorbidity, Humans, Infant, Exome Sequencing, Neurofibromatosis 1 genetics, Shaw Potassium Channels genetics, Spasms, Infantile genetics
Abstract

Patients with neurofibromatosis type 1 (NF1) have an increased risk for West syndrome (WS), but the underlying mechanisms linking NF1 and WS are unknown. In contrast to other neurocutaneous syndromes, intracerebral abnormalities explaining the course of infantile spasms (IS) are often absent and the seizure outcome is usually favorable. Several studies have investigated a potential genotype-phenotype correlation between NF1 and seizure susceptibility, but an association was not identified. Therefore, we identified three patients with NF1-related WS (NF1-WS) in a cohort of 51 NF1 patients and performed whole-exome sequencing (WES) to identify genetic modifiers. In two NF1 patients with WS and good seizure outcome, we did not identify variants in epilepsy-related genes. However, in a single patient with NF1-WS and transition to drug-resistant epilepsy, we identified a de novo variant in KCNC2 (c.G499T, p.D167Y) coding for Kv3.2 as a previously undescribed potassium channel to be correlated to epilepsy. Electrophysiological studies of the identified KCNC2 variant demonstrated both a strong loss-of-function effect for the current amplitude and a gain-of-function effect for the channel activation recommending a complex network effect. These results suggest that systematic genetic analysis for potentially secondary genetic etiologies in NF1 patients and severe epilepsy presentations should be done., Competing Interests: None declared., (Thieme. All rights reserved.)

Published
2020
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14. Variants in the ATP1A3 Gene Mutations within Severe Apnea Starting in Early Infancy: An Observational Study of Two Cases with a Possible Relation to Epileptic Activity.

Author

Holze N, Baalen AV, Stephani U, Helbig I, and Muhle H

Subjects
Age of Onset, Child, Preschool, Female, Humans, Apnea genetics, Developmental Disabilities genetics, Epilepsy genetics, Sodium-Potassium-Exchanging ATPase genetics
Abstract

Mutations in the ATP1A3 gene are known to cause alternating hemiplegia of childhood (AHC) and rapid-onset dystonia parkinsonism (RDP). Both conditions are childhood-onset neurological disorders with distinct symptoms and different times of onset. ATP1A3 has also been associated with CAPOS syndrome (cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss). Within the various ATP1A3 -related neurological syndromes, a specific genotype-phenotype correlation is starting to emerge. Several mutations such as the relatively common p.E815K pathogenic variant have been shown to strongly correlate with AHC, while others may cause both AHC and RDP. A significant subset of patients with AHC and RDP are reported to have epileptic seizures. Even though detailed clinical descriptions of seizures in childhood are rare, seizures involving apneic events seem to be frequent in ATP1A3 -related neurological disorders. Here, we describe two children with unexplained severe apnea beginning around the first year of life and pathogenic variants in ATP1A3 . We hypothesize that the symptoms are early-onset autonomic seizures related to the underlying pathogenic ATP1A3 variants., Competing Interests: Disclosure The authors report no conflicts of interest in this work., (Georg Thieme Verlag KG Stuttgart · New York.)

Published
2018
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