文献
J-GLOBAL ID:201202238562655542
整理番号:12A1668364
夜間前頭葉てんかん:ナトリウム依存性カリウムチャネル遺伝子KCNT1のミスセンス変異は重症の常染色体優性夜間前頭葉てんかんを起こす
Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy
著者 (19件):
HERON Sarah E
(Univ. South Australia, South Australia, AUS)
,
DIBBENS Leanne M
(Univ. South Australia, South Australia, AUS)
,
SMITH Katherine R
(Walter and Eliza Hall Inst. of Medical Res., Victoria, AUS)
,
BAHLO Melanie
(Walter and Eliza Hall Inst. of Medical Res., Victoria, AUS)
,
SMITH Katherine R
(Univ. Melbourne, Victoria, AUS)
,
BAHLO Melanie
(Univ. Melbourne, Victoria, AUS)
,
NOBILI Lino
(Ospedale Niguarda, Milan, ITA)
,
KAHANA Esther
(Ben-Gurion Univ. the Negev, Beer-Sheva, ISR)
,
LICCHETTA Laura
(Univ. Melbourne, Victoria, AUS)
,
OLIVER Karen L
(Univ. Melbourne, Victoria, AUS)
,
BERKOVIC Samuel F
(Univ. Melbourne, Victoria, AUS)
,
SCHEFFER Ingrid E
(Univ. Melbourne, Victoria, AUS)
,
MAZARIB Aziz
(Tel-Aviv Sourasky Medical Center, Tel Aviv, ISR)
,
AFAWI Zaid
(Tel-Aviv Univ., Ramat Aviv, ISR)
,
KORCZYN Amos
(Tel-Aviv Univ. Medical School, Ramat Aviv, ISR)
,
PLAZZI Giuseppe
(Univ. Bologna, Bologna, ITA)
,
PETROU Steven
(Florey Inst. of Neuroscience and Mental Health, Victoria, AUS)
,
SCHEFFER Ingrid E
(Florey Inst. of Neuroscience and Mental Health, Victoria, AUS)
,
PETROU Steven
(Univ. Melbourne, Victoria, AUS)
資料名:
Nature Genetics
(Nature Genetics)
巻:
44
号:
11
ページ:
1188-1190
発行年:
2012年11月
JST資料番号:
W0430A
ISSN:
1061-4036
資料種別:
逐次刊行物 (A)
記事区分:
短報
発行国:
アメリカ合衆国 (USA)
言語:
英語 (EN)