Nicole A. Hawkins, et.al., Neuronal voltage-gated ion channels are genetic modifiers of generalized epilepsy with febrile seizures plus., Neurobiology of disease, 2011, 41

http://rdf.ncbi.nlm.nih.gov/pubmed/21156207

Nicole A. Hawkins, et.al., Neuronal voltage-gated ion channels are genetic modifiers of generalized epilepsy with febrile seizures plus., Neurobiology of disease, 2011, 41

pubmed

表現型アノテーション

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

• convulsive seizures_Tg(Eno2-Scn2a1*)Q54Mm/0
  http://metadb.riken.jp/0000947B6CgTgEno2Scn2a1Q54MmTgEno2Scn2a1Q54Mm0TgEno2Scn2a1Q54Mm
• convulsive seizures_Kcnq2<Nmf134>/Kcnq2<+>,Scn1a<tm1.1Aesc>/Scn1a<+>
  http://metadb.riken.jp/0000947I129S6SvEvTac129X1SvJC57BL6JKcnq2Nmf134Kcnq2Scn1atm11AescScn1aKcnq2Kcnq2Nmf134Scn1atm11AescScn1a
• convulsive seizures_Scn1a<tm1.1Aesc>/Scn1a<+>,Tg(Eno2-Scn2a1*)Q54Mm/0
  http://metadb.riken.jp/0000947I129S6SvEvTac129X1SvJC57BL6JSJLJScn1atm11AescScn1aTgEno2Scn2a1Q54Mm0Scn1atm11AescTgEno2Scn2a1Q54MmScn1a
• tonic-clonic seizures_Scn1a<tm1.1Aesc>/Scn1a<+>,Tg(Eno2-Scn2a1*)Q54Mm/0
  http://metadb.riken.jp/0003997I129S6SvEvTac129X1SvJC57BL6JSJLJScn1atm11AescScn1aTgEno2Scn2a1Q54Mm0Scn1atm11AescTgEno2Scn2a1Q54MmScn1a
• tonic-clonic seizures_Kcnq2<Nmf134>/Kcnq2<+>,Scn1a<tm1.1Aesc>/Scn1a<+>
  http://metadb.riken.jp/0003997I129S6SvEvTac129X1SvJC57BL6JKcnq2Nmf134Kcnq2Scn1atm11AescScn1aKcnq2Kcnq2Nmf134Scn1atm11AescScn1a
• decreased susceptibility to pharmacologically induced seizures_Scn8a<med-jo>/Scn8a<+>
  http://metadb.riken.jp/0002887B6D2Scn8amedjoJScn8amedjoScn8aScn8amedjoScn8a
• postnatal lethality, incomplete penetrance_Scn1a<tm1.1Aesc>/Scn1a<tm1.1Aesc>,Scn8a<med-jo>/Scn8a<+>
  http://metadb.riken.jp/0011086I129S6SvEvTac129X1SvJC57BL6JDBA2WyDiScn1atm11AescScn1atm11AescScn8amedjoScn8aScn1atm11AescScn8amedjoScn8a
• postnatal lethality, complete penetrance_Scn1a<tm1.1Aesc>/Scn1a<+>,Tg(Eno2-Scn2a1*)Q54Mm/0
  http://metadb.riken.jp/0011085I129S6SvEvTac129X1SvJC57BL6JSJLJScn1atm11AescScn1aTgEno2Scn2a1Q54Mm0Scn1atm11AescTgEno2Scn2a1Q54MmScn1a
• decreased survivor rate_Scn1a<tm1.1Aesc>/Scn1a<tm1.1Aesc>,Scn8a<med-jo>/Scn8a<+>
  http://metadb.riken.jp/0008770I129S6SvEvTac129X1SvJC57BL6JDBA2WyDiScn1atm11AescScn1atm11AescScn8amedjoScn8aScn1atm11AescScn8amedjoScn8a
• postnatal lethality, incomplete penetrance_Kcnq2<Nmf134>/Kcnq2<+>,Scn1a<tm1.1Aesc>/Scn1a<+>
  http://metadb.riken.jp/0011086I129S6SvEvTac129X1SvJC57BL6JKcnq2Nmf134Kcnq2Scn1atm11AescScn1aKcnq2Kcnq2Nmf134Scn1atm11AescScn1a
• decreased survivor rate_Kcnq2<Nmf134>/Kcnq2<+>,Scn1a<tm1.1Aesc>/Scn1a<+>
  http://metadb.riken.jp/0008770I129S6SvEvTac129X1SvJC57BL6JKcnq2Nmf134Kcnq2Scn1atm11AescScn1aKcnq2Kcnq2Nmf134Scn1atm11AescScn1a
• increased susceptibility to pharmacologically induced seizures_Scn1a<tm1.1Aesc>/Scn1a<+>
  http://metadb.riken.jp/0002906I129S6SvEvTac129X1SvJC57BL6JScn1atm11AescScn1aScn1atm11AescScn1a
• postnatal lethality, complete penetrance_Scn1a<tm1.1Aesc>/Scn1a<tm1.1Aesc>
  http://metadb.riken.jp/0011085I129S6SvEvTac129X1SvJC57BL6JScn1atm11AescScn1atm11AescScn1atm11Aesc