About: Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy

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About: Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy Goto Sponge NotDistinct Permalink

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rdf:type	Item
description	article (en) wetenschappelijk artikel (nl) article scientifique publié en 2012 (fr) наукова стаття, опублікована в жовтні 2012 (uk) im Oktober 2012 veröffentlichter wissenschaftlicher Artikel (de)
publication date	wds:Q57767434-CB9159DA-C37E-4E51-BB27-40C550C8B2BE
publication date	2012-10-21 00:00:00Z (xsd:dateTime)
language of work or name	wds:Q57767434-A7782891-521C-4674-B8CC-E8E577825759
language of work or name	English
exact match	wds:Q57767434-8258A6B8-61A4-4082-95CF-E745B3F186C0
exact match	https://scigraph.springernature.com/pub.10.1038/ng.2440
cites work	wds:Q57767434-14C31553-8439-4281-B264-B884739EA09D wds:Q57767434-15F0D7DF-E690-4D3A-B0CF-3F4BEA1B1949 wds:Q57767434-267EFDA0-EAD1-4812-A9D3-D0AF38E94FEF wds:Q57767434-2F85C5E6-4286-42A4-B29D-731334499BFE wds:Q57767434-306F605C-71E2-4AE2-811C-CA1626B0D33E wds:Q57767434-37B612F5-261C-42E6-9F22-E9D3EC439760 wds:Q57767434-710C0FF4-7A93-4947-9F24-26012DB84582 wds:Q57767434-7D878284-65D5-4A86-97C9-4B04ABCF560E wds:Q57767434-84B421DB-3CA3-4FAD-92D0-7447E10CBBEC wds:Q57767434-8BC3C7AC-7FDB-40E2-8132-A69BFFA573F2 wds:Q57767434-8E3BC71C-BAB0-45B4-BBBE-199E0A8E84F6 wds:Q57767434-9B5B65CA-47EE-4F0B-8DD7-4383F2340D46 wds:Q57767434-A3DF26A2-B25D-4002-B825-6C94F590C7B5 wds:Q57767434-B5A19660-1005-4996-BB71-5E8CD5299CFF wds:Q57767434-CC974CF2-6262-4B6F-B6AB-1B929E77BF62
cites work	Autosomal dominant nocturnal frontal lobe epilepsy. A distinctive clinical disorder Autosomal dominant nocturnal frontal lobe epilepsy Increased sensitivity of the neuronal nicotinic receptor alpha 2 subunit causes familial epilepsy with nocturnal wandering and ictal fear Mechanisms of human inherited epilepsies NAD+ activates KNa channels in dorsal root ganglion neurons. Localization of the Slack potassium channel in the rat central nervous system. Localization of the Na+-activated K+ channel Slick in the rat central nervous system. Human nocturnal frontal lobe epilepsy: pharmocogenomic profiles of pathogenic nicotinic acetylcholine receptor beta-subunit mutations outside the ion channel pore The N-terminal domain of Slack determines the formation and trafficking of Slick/Slack heteromeric sodium-activated potassium channels Epileptic nocturnal wanderings Channelopathies in idiopathic epilepsy Severe autosomal dominant nocturnal frontal lobe epilepsy associated with psychiatric disorders and intellectual disability Schizophrenia, psychotic illness and other psychiatric symptoms in families with autosomal dominant nocturnal frontal lobe epilepsy caused by different mutations Five ADNFLE Mutations Reduce the Ca2+ Dependence of the Mammalian α4β2 Acetylcholine Response A family with autosomal dominant nocturnal frontal lobe epilepsy and mental retardation.
author name string	wds:Q57767434-3E5FD725-CACD-471A-A460-029CE3C99D9E wds:Q57767434-5833C00E-8825-4EF4-9B94-6EAFDFE7B7A4 wds:Q57767434-69448411-CA90-4A1F-88D5-E68EFE7F1298 wds:Q57767434-777D53E2-2EC1-4152-8DFE-69DD61BF1967 wds:Q57767434-B44AB90D-2B80-4653-BAD2-157D11046031 wds:Q57767434-D1A98D42-A4D9-4C5D-BEA4-40D0678D4F7E
author name string	Melanie Bahlo Katherine R Smith Esther Kahana Zaid Afawi Laura Licchetta Aziz Mazarib
rdfs:label	Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy (en) Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy (nl)
skos:prefLabel	Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy (en) Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy (nl)
name	Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy (en) Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy (nl)
author	wds:Q57767434-25CE5C88-E875-417B-A964-E609A8548FDB wds:Q57767434-34A43E71-3022-41A5-B09A-44A312477A7F wds:Q57767434-61DB5661-E593-4A58-8649-6CECBC594EB6 wds:Q57767434-6996EA00-CF14-4453-945C-3C92EB35CF38 wds:Q57767434-6AA523E9-A7ED-404F-A992-AD5E97D6F271 wds:Q57767434-745A10A0-6A22-4D93-A9B0-8ED6953B828D wds:Q57767434-8BC8C24A-F964-4EF3-B387-40AD794E9595 wds:Q57767434-D3F149B7-09D7-44DC-8431-F2F1E650138F wds:Q57767434-EA1651CA-31F4-4A53-8C17-F0D3C08748A7
author	Samuel Berkovic Ingrid Scheffer Amos D. Korczyn Giuseppe Plazzi Sarah E Heron Steven Petrou Leanne Dibbens Lino Nobili Karen Oliver
title	wds:Q57767434-4B6956CF-EFE8-43BC-A97B-B266DE6B00F7
title	Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy (en)
page(s)	wds:Q57767434-356B739A-A5FE-4622-A5DF-30B28ADBCBF5
page(s)	1188-1190
instance of	wds:Q57767434-E1FE6C92-2959-4702-B218-03B9CBE61B21
instance of	scholarly article
main subject	wds:Q57767434-E7FB6AC2-6CE7-4D54-8A40-9C321801841D
main subject	autosomal dominant nocturnal frontal lobe epilepsy
PubMed ID	wds:Q57767434-2DD0AE00-8B81-4F2A-8F09-3E8E06B5BEDE
PubMed ID	http://rdf.ncbi.nlm.nih.gov/pubchem/reference/23086396
PubMed ID	23086396
published in	wds:Q57767434-6667F1AC-5F7E-4EC2-A327-E13E8446A3C4
published in	Nature Genetics
issue	wds:Q57767434-6C517568-5A6C-491E-BE20-EC8000D191E8
volume	wds:Q57767434-34956F43-9454-4D79-91C9-86AC04CEA005
issue	11
volume	44
DOI	wds:Q57767434-08269533-92E1-4EFD-81D9-6563AEF366CC
DOI	http://dx.doi.org/10.1038/NG.2440
DOI	10.1038/NG.2440
Dimensions Publication ID	wds:Q57767434-48137DBC-209A-4565-8AB7-7F158C928D1E
Dimensions Publication ID	1039387323

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