Published in J Med Genet on October 19, 2005
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Mutations in UNC80, Encoding Part of the UNC79-UNC80-NALCN Channel Complex, Cause Autosomal-Recessive Severe Infantile Encephalopathy. Am J Hum Genet (2015) 0.83
A nonsense mutation in the SCN9A gene in congenital insensitivity to pain. Dermatology (2010) 0.82
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A novel locus for episodic ataxia:UBR4 the likely candidate. Eur J Hum Genet (2013) 0.82
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Scn8a voltage-gated sodium channel mutation alters seizure and anxiety responses to acute stress. Psychoneuroendocrinology (2013) 0.78
An Scn1a epilepsy mutation in Scn8a alters seizure susceptibility and behavior. Exp Neurol (2015) 0.76
Mice with an NaV1.4 sodium channel null allele have latent myasthenia, without susceptibility to periodic paralysis. Brain (2016) 0.75
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De novo and inherited SCN8A epilepsy mutations detected by gene panel analysis. Epilepsy Res (2016) 0.75
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Cardiac conduction defects associate with mutations in SCN5A. Nat Genet (1999) 2.73
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Mutations of sodium channel alpha subunit type 1 (SCN1A) in intractable childhood epilepsies with frequent generalized tonic-clonic seizures. Brain (2003) 2.44
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Secondary structure of the human cardiac Na+ channel C terminus: evidence for a role of helical structures in modulation of channel inactivation. J Biol Chem (2001) 1.78
A novel epilepsy mutation in the sodium channel SCN1A identifies a cytoplasmic domain for beta subunit interaction. J Neurosci (2004) 1.77
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D1/D5 dopamine receptor activation differentially modulates rapidly inactivating and persistent sodium currents in prefrontal cortex pyramidal neurons. J Neurosci (2001) 1.54
Allelic mutations of the sodium channel SCN8A reveal multiple cellular and physiological functions. Genetica (2004) 1.43
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Coding and noncoding variation of the human calcium-channel beta4-subunit gene CACNB4 in patients with idiopathic generalized epilepsy and episodic ataxia. Am J Hum Genet (2000) 2.21
A gain-of-function mutation in the sodium channel gene Scn2a results in seizures and behavioral abnormalities. Neuroscience (2001) 2.14
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