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Title:	De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy
Source:	Nature Genetics [1061-4036] Syrbe, Steffen yr:2015

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description	1.	Pippucci, T. "A Novel Null Homozygous Mutation ConfirmsCACNA2D2 as a Gene Mutated in Epileptic Encephalopathy." PLoS ONE 8.12 (2013).
description	2.	Long, Stephen B B. "Crystal structure of a mammalian voltage-dependent Shaker family K+ channel." Science 309.5736 (2005): 897-903.
description	3.	"Investigators from State University Report New Data on Ataxia (Ataxia and myoclonic epilepsy due to a heterozygous new mutation in KCNA2: proposal for a new channelopathy)." Obesity, Fitness & Wellness Week (2015): 3124-.
description	4.	Sairanen, S. "Visual fixation in human newborns correlates with extensive white matter networks and predicts long-term neurocognitive development." The Journal of neuroscience 35.12 (2015): 4824-9.
description	5.	Salokorpi, N. "Expression of VEGF and collagen XVIII in meningiomas: correlations with histopathological and MRI characteristics." Acta neurochirurgica 155.6 (2013): 989-96.
description	6.	Long, Stephen B. "Voltage Sensor of Kv1.2: Structural Basis of Electromechanical Coupling." Science 309.5736 (2005): 903-908.
description	7.	Pathak, Medha M M. "Closing in on the resting state of the Shaker K(+) channel." Neuron 56.1 (2007): 124-40.
description	8.	Ahern, Christopher A A. "Stirring up controversy with a voltage sensor paddle." Trends in Neurosciences 27.6 (2004): 303-307.
description	9.	Long, Roderick B. "Atomic structure of a voltage-dependent K(+) channel in a lipid membrane-like environment." Nature 450.7168 (2007): 376-382.
description	10.	Jiang, Y. "X-ray structure of a voltage-dependent K channel." Nature 423.6935 (2003): 33-41.
description	11.	Milh, M. "Epileptic and nonepileptic features in patients with early onset epileptic encephalopathy and STXBP1 mutations." Epilepsia 52.10 (2011): 1828-1834.
description	12.	Underwood, E. "Brain implant trials raise ethical concerns." Science 348.6240 (2015): 1186-1187.
description	13.	Bisulli, F. "Autosomal dominant partial epilepsy with auditory features: A new locus on chromosome 19q13.11-q13.31." Epilepsia 55.6 (2014): 841-8.
description	14.	"Studies Conducted at University of Leipzig on Epilepsy and Genetics Recently Reported (De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy)." Obesity, Fitness & Wellness Week (2015): 4283-.
description	15.	Suo Palosaari, M. "Long-term survival of an infant with diffuse brainstem lesion diagnosed by prenatal MRI: a case report and review of the literature." Child's Nervous System 32.6 (2016): 1-6.
description	16.	Castillo Carranza, Diana L. "Tau immunotherapy modulates both pathological tau and upstream amyloid pathology in an Alzheimer's disease mouse model." The Journal of neuroscience 35.12 (2015): 4857-68.
description	17.	Nayak, L. "Atypical and anaplastic meningiomas treated with bevacizumab." Journal of neuro-oncology 109.1 (2012): 187-193.
description	18.	Field Ridley, A. "Endostatin, an Inhibitor of Angiogenesis, Decreases After Bidirectional Superior Cavopulmonary Anastamosis." Pediatric cardiology 34.2 (2012): 291-295.
description	19.	Di Giorgio, E. "Is the face-perception system human-specific at birth?" Developmental psychology 48.4 (2011): 1083-1090.
description	20.	GMSJ, S. "Behaviour at 2 years of age in very preterm infants (gestational age <32 weeks)." Acta pædiatrica 92.5 (2003): 1-601.