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Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 01/2016, Volume 98, Issue 1, pp. 210 - 215
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 04/2016, Volume 98, Issue 4, pp. 772 - 781
Journal Article
GENETICS, ISSN 0016-6731, 05/2017, Volume 206, Issue 1, pp. 265 - 282
The heterotrimeric G protein G(q) positively regulates neuronal activity and synaptic transmission. Previously, the Rho guanine nucleotide exchange factor Trio... 
C. elegans | RESPIRATORY RHYTHM | SEVERE INTELLECTUAL DISABILITY | NEUROTRANSMITTER RELEASE | CATION CHANNEL | NALCN CAUSE | Rho small GTPase | GAIN-OF-FUNCTION | SIGNALING PATHWAY | NCA/NALCN ion channels | SODIUM LEAK CHANNEL | GENETICS & HEREDITY | C-ELEGANS | NEURONAL EXCITABILITY | G(q) signaling | G protein
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 11/2016, Volume 53, Issue 11, pp. 786 - 792
Background Voltage-gated potassium channels are highly diverse proteins representing the most complex class of voltage-gated ion channels from structural and... 
GAIN-OF-FUNCTION | EPISODIC ATAXIA TYPE-1 | GENETICS & HEREDITY | SENSORINEURAL DEAFNESS | NALCN CAUSE | CENTRAL-NERVOUS-SYSTEM | MUTATIONS | POTASSIUM CHANNEL GENE | EXPRESSION | K+ CHANNELS | FAST INACTIVATION
Journal Article
Science, ISSN 0036-8075, 12/2018, Volume 362, Issue 6419, pp. 1161 - 1164
Journal Article
Current Topics in Membranes, ISSN 1063-5823, 2017, Volume 79, pp. 97 - 134
Journal Article
Journal Article
Journal of Clinical Sleep Medicine, ISSN 1550-9389, 08/2018, Volume 14, Issue 8, pp. 1419 - 1425
There have been no published reports of central respiratory control abnormalities in pediatric patients with UNC80 or KCNJ11 mutations which cause neurologic... 
Central apnea | Pediatrics | Positive airway pressure | Respiratory control | Channelopathy | respiratory control | channelopathy | NALCN | positive airway pressure | CLINICAL NEUROLOGY | central apnea | CHANNEL | EXCITABILITY | HYPOTONIA | pediatrics | NEURONS | RHYTHM | ACTIVATING MUTATIONS
Journal Article
Frontiers in Cellular Neuroscience, ISSN 1662-5102, 05/2014, Volume 8, Issue MAY, p. 132
Journal Article
Journal Article
Molecular Human Reproduction, ISSN 1360-9947, 02/2015, Volume 21, Issue 10, pp. 816 - 824
Uterine contractions are tightly regulated by the electrical activity of myometrial smooth muscle cells (MSMCs). These cells require a depolarizing current to... 
Pregnancy | Myometrium | Leak current | Uterus | Contraction | GADOLINIUM | ACTIVATION | pregnancy | DEVELOPMENTAL BIOLOGY | IDENTIFICATION | NALCN | OBSTETRICS & GYNECOLOGY | myometrium | PACEMAKING | REPRODUCTIVE BIOLOGY | uterus | CALCIUM-CHANNELS | leak current | ION-CHANNEL | contraction | NEURONAL EXCITABILITY | EXPRESSION
Journal Article
FRONTIERS IN CELLULAR NEUROSCIENCE, ISSN 1662-5102, 05/2014, Volume 8
Ion channels are crucial components of cellular excitability and are involved in many neurological diseases. This review focuses on the sodium leak, G... 
VOLATILE GENERAL-ANESTHETICS | 13Q DELETION SYNDROME | NALCN | UNC-80 | INFANTILE NEUROAXONAL DYSTROPHY |