KEGG   DISEASE: 良性成人型家族性ミオクローヌスてんかん
エントリ  
H02213                                                             
名称    
良性成人型家族性ミオクローヌスてんかん
概要    
Familial adult myoclonic epilepsy (FAME), also known as benign adult familial myoclonic epilepsy (BAFME), is an autosomal dominant disorder characterized by adult-onset tremulous hand movement, infrequent epileptic seizure and non-progressive course without cerebellar ataxia and dementia. It has been suggested that abnormal expansions of TTTCA and TTTTA repeats in introns of SAMD12, TNRC6A and RAPGEF2 cause this disease. Recently, Autosomal recessive form with a mutation in CNTN2 gene has been reported.
カテゴリ  
神経系疾患
階層分類  
ICD-11 による疾患分類 [BR:jp08403]
 08 神経系の疾患
  てんかんまたは発作
   8A61  主にてんかんとして発現する遺伝的または推定される遺伝的症候群
    H02213  良性成人型家族性ミオクローヌスてんかん
病因遺伝子 
(FAME1) SAMD12 [HSA:401474] [KO:K28209]
(FAME2) STARD7 [HSA:56910] [KO:K24141]
(FAME3) MARCH6 [HSA:10299] [KO:K10661]
(FAME4) YEATS2 [HSA:55689] [KO:K24539]
(FAME5) CNTN2 [HSA:6900] [KO:K06760]
(FAME6) TNRC6A [HSA:27327] [KO:K18412]
(FAME7) RAPGEF2 [HSA:9693] [KO:K08018]
リンク   
ICD-11: 8A61.32
MeSH: C563399 C564313 C567098
OMIM: 601068 607876 613608 615127 615400 618074 618075
文献    
  著者
Mori S, Nakamura M, Yasuda T, Ueno S, Kaneko S, Sano A
  タイトル
Remapping and mutation analysis of benign adult familial myoclonic epilepsy in a Japanese pedigree.
  雑誌
J Hum Genet 56:742-7 (2011)
DOI:10.1038/jhg.2011.93
文献    
  著者
Labauge P, Amer LO, Simonetta-Moreau M, Attane F, Tannier C, Clanet M, Castelnovo G, An-Gourfinkel I, Agid Y, Brice A, Ducros A, LeGuern E
  タイトル
Absence of linkage to 8q24 in a European family with familial adult myoclonic epilepsy (FAME).
  雑誌
Neurology 58:941-4 (2002)
DOI:10.1212/WNL.58.6.941
文献    
PMID:29507423 (SAMD12 TNRC6A RAPGEF2)
  著者
Ishiura H, Doi K, Mitsui J, Yoshimura J, Matsukawa MK, Fujiyama A, Toyoshima Y, Kakita A, Takahashi H, Suzuki Y, Sugano S, Qu W, Ichikawa K, Yurino H, Higasa K, Shibata S, Mitsue A, Tanaka M, Ichikawa Y, Takahashi Y, Date H, Matsukawa T, Kanda J, Nakamoto FK, Higashihara M, Abe K, Koike R, Sasagawa M, Kuroha Y, Hasegawa N, Kanesawa N, Kondo T, Hitomi T, Tada M, Takano H, Saito Y, Sanpei K, Onodera O, Nishizawa M, Nakamura M, Yasuda T, Sakiyama Y, Otsuka M, Ueki A, Kaida KI, Shimizu J, Hanajima R, Hayashi T, Terao Y, Inomata-Terada S, Hamada M, Shirota Y, Kubota A, Ugawa Y, Koh K, Takiyama Y, Ohsawa-Yoshida N, Ishiura S, Yamasaki R, Tamaoka A, Akiyama H, Otsuki T, Sano A, Ikeda A, Goto J, Morishita S, Tsuji S
  タイトル
Expansions of intronic TTTCA and TTTTA repeats in benign adult familial myoclonic epilepsy.
  雑誌
Nat Genet 50:581-590 (2018)
DOI:10.1038/s41588-018-0067-2
文献    
PMID:31664034 (STARD7)
  著者
Corbett MA, Kroes T, Veneziano L, Bennett MF, Florian R, Schneider AL, Coppola A, Licchetta L, Franceschetti S, Suppa A, Wenger A, Mei D, Pendziwiat M, Kaya S, Delledonne M, Straussberg R, Xumerle L, Regan B, Crompton D, van Rootselaar AF, Correll A, Catford R, Bisulli F, Chakraborty S, Baldassari S, Tinuper P, Barton K, Carswell S, Smith M, Berardelli A, Carroll R, Gardner A, Friend KL, Blatt I, Iacomino M, Di Bonaventura C, Striano S, Buratti J, Keren B, Nava C, Forlani S, Rudolf G, Hirsch E, Leguern E, Labauge P, Balestrini S, Sander JW, Afawi Z, Helbig I, Ishiura H, Tsuji S, Sisodiya SM, Casari G, Sadleir LG, van Coller R, Tijssen MAJ, Klein KM, van den Maagdenberg AMJM, Zara F, Guerrini R, Berkovic SF, Pippucci T, Canafoglia L, Bahlo M, Striano P, Scheffer IE, Brancati F, Depienne C, Gecz J
  タイトル
Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2.
  雑誌
Nat Commun 10:4920 (2019)
DOI:10.1038/s41467-019-12671-y
文献    
PMID:31664039 (MARCH6)
  著者
Florian RT, Kraft F, Leitao E, Kaya S, Klebe S, Magnin E, van Rootselaar AF, Buratti J, Kuhnel T, Schroder C, Giesselmann S, Tschernoster N, Altmueller J, Lamiral A, Keren B, Nava C, Bouteiller D, Forlani S, Jornea L, Kubica R, Ye T, Plassard D, Jost B, Meyer V, Deleuze JF, Delpu Y, Avarello MDM, Vijfhuizen LS, Rudolf G, Hirsch E, Kroes T, Reif PS, Rosenow F, Ganos C, Vidailhet M, Thivard L, Mathieu A, Bourgeron T, Kurth I, Rafehi H, Steenpass L, Horsthemke B, LeGuern E, Klein KM, Labauge P, Bennett MF, Bahlo M, Gecz J, Corbett MA, Tijssen MAJ, van den Maagdenberg AMJM, Depienne C
  タイトル
Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3.
  雑誌
Nat Commun 10:4919 (2019)
DOI:10.1038/s41467-019-12763-9
文献    
PMID:31539032 (YEATS2)
  著者
Yeetong P, Pongpanich M, Srichomthong C, Assawapitaksakul A, Shotelersuk V, Tantirukdham N, Chunharas C, Suphapeetiporn K, Shotelersuk V
  タイトル
TTTCA repeat insertions in an intron of YEATS2 in benign adult familial myoclonic epilepsy type 4.
  雑誌
Brain 142:3360-3366 (2019)
DOI:10.1093/brain/awz267
文献    
PMID:23518707 (CNTN2)
  著者
Stogmann E, Reinthaler E, Eltawil S, El Etribi MA, Hemeda M, El Nahhas N, Gaber AM, Fouad A, Edris S, Benet-Pages A, Eck SH, Pataraia E, Mei D, Brice A, Lesage S, Guerrini R, Zimprich F, Strom TM, Zimprich A
  タイトル
Autosomal recessive cortical myoclonic tremor and epilepsy: association with a mutation in the potassium channel associated gene CNTN2.
  雑誌
Brain 136:1155-60 (2013)
DOI:10.1093/brain/awt068
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