Melinda S. Martin, et.al., The voltage-gated sodium channel Scn8a is a genetic modifier of severe myoclonic epilepsy of infancy., Human molecular genetics, 2007, 16

http://rdf.ncbi.nlm.nih.gov/pubmed/17881658

Melinda S. Martin, et.al., The voltage-gated sodium channel Scn8a is a genetic modifier of severe myoclonic epilepsy of infancy., Human molecular genetics, 2007, 16

pubmed

表現型アノテーション

http://purl.org/net/cito/citesAsAuthority

• premature death_Scn1a<tm1Wac>/Scn1a<+>
  http://metadb.riken.jp/0002083I129S1Sv129X1SvJFVBNJScn1atm1WacScn1aScn1aScn1atm1Wac
• decreased susceptibility to pharmacologically induced seizures_Scn8a<med-jo>/Scn8a<+>
  http://metadb.riken.jp/0002887B6D2Scn8amedjoJScn8amedjoScn8aScn8amedjoScn8a
• decreased susceptibility to pharmacologically induced seizures_Scn8a<med>/Scn8a<+>
  http://metadb.riken.jp/0002887C3FeCgScn8amedJScn8amedScn8aScn8amedScn8a
• increased susceptibility to pharmacologically induced seizures_Scn1a<tm1Wac>/Scn1a<+>
  http://metadb.riken.jp/0002906I129S1Sv129X1SvJFVBNJScn1atm1WacScn1aScn1aScn1atm1Wac
• tonic-clonic seizures_Scn1a<tm1Wac>/Scn1a<+>
  http://metadb.riken.jp/0003997I129S1Sv129X1SvJFVBNJScn1atm1WacScn1aScn1aScn1atm1Wac
• abnormal spike wave discharge_Scn1a<tm1Wac>/Scn1a<+>,Scn8a<med-jo>/Scn8a<+>
  http://metadb.riken.jp/0008840I129C57BL6JDBA2WyDiFVBNJScn1atm1WacScn1aScn8amedjoScn8aScn8aScn8amedjoScn1aScn1atm1Wac
他3件を見る
• abnormal spike wave discharge_Scn1a<tm1Wac>/Scn1a<+>
  http://metadb.riken.jp/0008840I129S1Sv129X1SvJFVBNJScn1atm1WacScn1aScn1aScn1atm1Wac
• postnatal lethality, complete penetrance_Scn1a<tm1Wac>/Scn1a<tm1Wac>,Scn8a<med-jo>/Scn8a<+>
  http://metadb.riken.jp/0011085I129C57BL6JDBA2WyDiFVBNJScn1atm1WacScn1atm1WacScn8amedjoScn8aScn8amedjoScn8aScn1atm1Wac
• postnatal lethality, complete penetrance_Scn1a<tm1Wac>/Scn1a<tm1Wac>
  http://metadb.riken.jp/0011085I129S1Sv129X1SvJFVBNJScn1atm1WacScn1atm1WacScn1atm1Wac