Results 71 to 80 of about 5,101 (164)

Mechanismen hereditärer neonataler Anfälle: Funktionelle Charakterisierung einer neuen KCNQ2 Mutation und hippokampaler Neurone von KCNQ2 Knock-Out Mäusen.

, 2012
Functional analysis of a new KCNQ2 mutation and electrophysiological characterization of hippocampal cells in KCNQ2 knock-out mice using the Patch-Clamp ...
Naros, Georgios
core   +1 more source

Data‐Driven Insights into Hyperkinetic Disorders in Neurodevelopmental Syndromes and Epileptic Encephalopathies

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Childhood‐onset hyperkinetic movement disorders occur in a range of genetic conditions. Recently, there has been an increase in recognition of hyperkinetic movement disorders, mainly dystonia, chorea and dyskinesia, with monogenic conditions associated with neurodevelopmental delay (NDD) and also with developmental and epileptic ...
Hugo Morales‐Briceño, Shekeeb S. Mohammad, Rajeshwar Reddy Angiti, Velda Han, Michel Tchan, Russell C. Dale, Victor S.C. Fung   +6 more
wiley   +1 more source

Genetic Etiologies of Dystonia with Anarthria/Aphonia

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Dystonia with anarthria and/or aphonia (DAnAp) represents a distinctive phenotype manifesting across lifespan. Frequently associated with genetic disorders, early recognition is critical for diagnosis and management. Objectives To provide practical recommendations for the clinical evaluation of patients with DAnAp, enhancing ...
Anika Ménétrey, Eriberto Rayco, Maziar Emamikhah Abarghouei, Susan H. Fox, Anthony E. Lang, George M. Ibrahim, Carolina Gorodetsky, Christos Ganos   +7 more
wiley   +1 more source

KCNQ2/3/5 channels in dorsal root ganglion neurons can be therapeutic targets of neuropathic pain in diabetic rats

Molecular Pain, 2018
Background Diabetic neuropathic pain is poorly controlled by analgesics, and the precise molecular mechanisms underlying hyperalgesia remain unclear. The KCNQ2/3/5 channels expressed in dorsal root ganglion neurons are important in pain transmission. The
Ting Yu, Lei Li, Huaxiang Liu, Hao Li, Zhen Liu, Zhenzhong Li   +5 more
doaj   +1 more source

Genetic testing in paediatric neurological disorders

Developmental Medicine &Child Neurology, EarlyView.
In this study 390 paediatric patients with neurological disorders underwent genetic testing via exome sequencing, commercial panel, in‐house epilepsy, and movement disorder gene panels. Exome sequencing provides the highest diagnostic yield, and severe developmental delay and hypotonia predicted pathogenic variants in the exome sequencing cohort ...
Wafa Bani Uraba, Byoung Chan Lee, Shekeeb S. Mohammad, Katrina Fisk, Michael Buckley, Russell C. Dale, Tony Roscioli, Paediatric Neurogenomic Working Group, Manoj P. Menezes, Sachin Gupta, Christopher Troedson, Esther Tantsis, Richard Webster, Bruce Bennetts, Deepak Gill, Kavitha Kothur   +15 more
wiley   +1 more source

Pathophysiology of developmental and/or epileptic encephalopathy with spike–wave activation in sleep: A diagnostic framework

Developmental Medicine &Child Neurology, EarlyView.
This review integrates emerging evidence on the pathophysiology of D/EE‐SWAS, highlighting the role of disrupted sleep homeostasis and thalamocortical network dysfunction. We propose a clinically applicable diagnostic framework that combines sleep EEG, structural imaging, genomic testing and longitudinal neuropsychological assessment to improve ...
Aysha Rasheed, Shivani Sekar, Rameez Naqvi, Manidipa Dutta, Manal Issa, Angeliki Menounou, Deepa Krishnakumar, Thiloka Ratnaike   +7 more
wiley   +1 more source

Kcnq (Kv7) channels exhibit frequency-dependent responses via partial inductor-like gating dynamics

Communications Biology
Kcnq channels are low-threshold voltage-dependent K+ channels that generate M-currents, which regulate the peri-threshold membrane potential. Kcnq channels reportedly participate in band-pass frequency responses (i.e., resonance), but it remains largely ...
Yuta Eguchi, Yuki Kuwano, Satoshi Okada, Hiroyuki Morino, Kouichi Hashimoto   +4 more
doaj   +1 more source

Converging evidence for epistasis between ANK3 and potassium channel gene KCNQ2 in bipolar disorder

Frontiers in Genetics, 2013
Genome-wide association studies (GWAS) have implicated ANK3 as a susceptibility gene for bipolar disorder (BP). We examined whether epistasis with ANK3 may contribute to the missing heritability in BP. We first identified via the STRING database 14 genes
Jennifer Toolan Judy, Fayaz eSeifuddin, Mehdi ePirooznia, Pamela Belmonte Mahon, Fernando S. Goes, Dubravka eJancic, Thomas eSchultze, Thomas eSchultze, Sven eCichon, Markus M Nöthen, Marcella eRietschel, Bipolar Genome Study e(BiGS) Consortium, J. Raymond eDePaulo, James B. Potash, Peter P. Zandi, Peter P. Zandi   +15 more
doaj   +1 more source

Persistent in vitro nociceptor hyperexcitability and axonal retraction produced by repeated paclitaxel doses

The FEBS Journal, EarlyView.
Repeated paclitaxel exposure causes long‐lasting nociceptor hyperexcitability and axonal retraction in adult sensory neurons. Using a long‐term primary nociceptor culture, we show that hyperexcitability is mediated by sequential upregulation of NaV1.8, TRPV1, TRPA1, and TRPM8 channels.
Angela Lamberti, Victor Moreno Lozano, Asia Fernández‐Carvajal, Antonio Ferrer‐Montiel   +3 more
wiley   +1 more source

Early-onset oculogyric crises in an infant with self-limited familial neonatal epilepsy : A case report

Brain Disorders
Background: Oculogyric crises have been less commonly reported in KCNQ2-related disorders. This case report aims to illustrate the clinical variability of KCNQ2-related disorders and emphasize the importance of genetic diagnostics in neonatal epilepsy ...
Alise Skoromka, Sandis Kovaļovs
doaj   +1 more source