Results 91 to 100 of about 5,101 (164)

Impact of KCNQ2 mutations in Bulgarian patients with electroclinical syndromes with onset in the first year of life

Biotechnology & Biotechnological Equipment, 2017
Mutations in KCNQ2 are associated with a range of electroclinical syndromes with dominant inheritance that are differentiated by the age at onset of the seizures and are associated with good prognosis.
Valentina Peycheva, Neviana Ivanova, Kunka Kamenarova, Irina Tsekova, Iliyana Aleksandrova, Veneta Bozhinova, Maria Bozhidarova, Ivan Litvinenko, Dimitrina Hristova, Vanyo Mitev, Radka Kaneva, Albena Jordanova   +11 more
doaj   +1 more source

KCNQ2 Encephalopathy and Neonatal Seizures

, 2011
Researchers from centers in Belgium and Australia analyzed 80 patients with unexplained neonatal or early infantile seizures and associated psychomotor retardation for KCNQ2 ...
J Gordon Millichap
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Developmental dysfunction in a preclinical model of Kcnq2 developmental and epileptic encephalopathy

Neurobiology of Disease
Background: Developmental and epileptic encephalopathies (DEE) are rare but severe neurodevelopmental disorders characterised by early-onset seizures often combined with developmental delay, behavioural and cognitive deficits.
Miaomiao Mao, Nikola Jancovski, Yafit Kushner, Lucas Teasdale, Phan Truong, Kun Zhou, Samuel Reid, Linghan Jia, Ye Htet Aung, Melody Li, Christopher A. Reid, Sean Byars, Ingrid Scheffer, Steven Petrou, Snezana Maljevic   +14 more
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KCNQ2 encephalopathy: Emerging phenotype of a neonatal epileptic encephalopathy

, 2012
Objective: KCNQ2 and KCNQ3 mutations are known to be responsible for benign familial neonatal seizures (BFNS). A few reports on patients with a KCNQ2 mutation with a more severe outcome exist, but a definite relationship has not been established. In this
Mulley, J., Scheffer, Ingrid E., Ingrid E. Scheffer, Lagae, L., Tine Deconinck, An Jansen, Ceulemans, Berten, Sarah Weckhuysen, John C. Mulley, Claes, Lieve RF, Thorsten Stanley, Weckhuysen, Sarah, Stanley, T., Jansen, An, Yendle, Simone, Hasaerts, Dani\ue8le, Katrien Smets, Yordanova, Iglika, Deconinck, T., Dominique Audenaert, Claes, L., Filip Roelens, Weckhuysen, S., Deconinck, Tine, Mulley, John C, Deprez, L., Mulley, John C., Heron, Sarah E, Lieven Lagae, Jordanova, Albena, Stanley, Thorsten, Yendle, S., Berten Ceulemans, Audenaert, D., Jordanova, A., Suls, Arvid, Liesbet Deprez, Hasaerts, D., Heron, Sarah E., Claes, Godelieve, de Jonghe, Peter, et al., Berkovic, Samuel F, Mandelstam, Simone, Smets, katrien, Danièle Hasaerts, Roelens, F., Dimitrina Hristova, Albena Jordanova, Hasaerts, Danièle, Jansen, A., Sarah E. Heron, Hristova, D., Roelens, Filip, null Peter de Jonghe, Smets, K., Scheffer, Ingrid E, Simone Mandelstam, Suls, A., Samuel F. Berkovic, Heron, S., Audenaert, Dominique, Lieve R.F. Claes, Lagae, Lieven, Berkovic, Samuel F., Arvid Suls, Jansen, Anna, Iglika Yordanova, Simone Yendle, Yordanova, I., Ceulemans, B., Hristova, Dimitrina, Mandelstam, S., Deprez, Liesbet   +73 more
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Mid-Infrared Photons Alleviate Tinnitus by Activating the KCNQ2 Channel in the Auditory Cortex

Research
Tinnitus is a phantom auditory sensation often accompanied by hearing loss, cognitive impairments, and psychological disturbances in various populations.
Peng Liu, Xinmiao Xue, Chi Zhang, Hanwen Zhou, Zhiwei Ding, Li Wang, Yuke Jiang, Zhixin Zhang, Weidong Shen, Shiming Yang, Fangyuan Wang   +10 more
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HoloCaM was retained in the KCNQ2 channel complex via AKAP150.

, 2013
A, Calcium (100 µM) dependent binding of CaM to AKAP79. B, In vitro binding of KCNQ2 and CaM with or without AKAP150. KCNQ2-FLAG was immunopurified by anti-FLAG conjugated resin.
Anastasia Kosenko (494812), Naoto Hoshi (341820)   +1 more
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A knock-in mouse model for KCNQ2 -related epileptic encephalopathy displays spontaneous generalized seizures and cognitive impairment

, 2020
International audienceObjective - Early onset epileptic encephalopathy with suppression-burst is one of the most severe epilepsy phenotypes in human patients.
Florence Molinari, Roubertoux, Pierre L., Collins, Stephan Christopher, Julie Chavany, Yalcin, Binnaz, Lenck-Santini, Pierre-Pascal, Christel Wagner, Milh, Mathieu, Molinari, Florence, Wagner, Christel, Stephan Christopher Collins, Binnaz Yalcin, Pierre Roubertoux, Jean‐Christophe Roux, Marie‐Solenne Félix, Adeline Spiga Ghata, Fulachier, Camille, Mathieu Milh, Roux, Jean-Christophe, Camille Fulachier, Ghata, Adeline, Chavany, Julie, Felix, Marie-Solenne, Villard, Laurent, Pierre‐Pascal Lenck‐Santini, Biba, Najoua, Laurent Villard, Najoua Biba   +27 more
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KCNQ/M currents in sensory neurons: Significance for pain therapy [PDF]

, 2003
Neuronal hyperexcitability is a feature of epilepsy and both inflammatory and neuropathic pain. M currents [I-K(M)] play a key role in regulating neuronal excitability, and mutations in neuronal KCNQ2/3 subunits, the molecular correlates of I-K(M), have ...
Main, M, Matthews, EA, Burbidge, SA, Brown, TA, Brown, DA, Passmore, GM, Marsh, SJ, Mistry, M, Selyanko, AA, Al-Qatari, M, Dickenson, AH   +10 more
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PP2A-Bgamma subunit and KCNQ2 K(+) channels in bipolar disorder

, 2007
Many bipolar affective disorder (BD) susceptibility loci have been identified but the molecular mechanisms responsible for the disease remain to be elucidated.
D. Cohen, M. Lazdunski, A. Charpagne, M. Bouillot, J. J. Luan, I. Chumakov, G. Romey, M. Borsotto, M. Nasroune, R. Léger, M. Bastucci, L. Cavarec, A. Delaye, J. L. Sambucy, F. Macciardi, V. Jouët   +15 more
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Moderate loss of function of cyclic-AMP-modulated KCNQ2/KCNQ3 K+ channels causes epilepsy

, 1998
Epilepsy affects more than 0.5% of the world's population and has a large genetic component. It is due to an electrical hyperexcitability in the central nervous system.
Jentsch, T.J., Thomas J. Jentsch, Björn C. Schroeder, Stein, V., Valentin Stein, Schroeder, B.C., Christian Kubisch, Kubisch, C.   +7 more
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