KEGG DISEASE: 良性家族性乳児けいれん

DISEASE: 良性家族性乳児けいれん

エントリ

H02362

名称

良性家族性乳児けいれん

概要

Benign familial infantile seizure (BFIS) is an autosomal dominant disease characterized by focal seizures, occurring mostly in clusters, and usually first seen between 4 and 8 months of life. Psychomotor development is normal, and seizures usually resolve within the first year of life. PRRT2 has been identified as the major gene found to be mutated in 80 to 90% of cases. Recently, mutations in the genes coding for the voltage-gated sodium channel subunits have 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
  頭痛性疾患
   8A80  片頭痛
    H02362  良性家族性乳児けいれん

病因遺伝子

(BFIS2) PRRT2 [HSA:112476] [KO:K23897]
(BFIS3) SCN2A [HSA:6326] [KO:K04834]
(BFIS5) SCN8A [HSA:6334] [KO:K04840]

リンク

ICD-11:

8A80.Y

MeSH:

D020936

OMIM:

601764 605751 607745 617080

文献

PMID:22243967

著者

Heron SE, Grinton BE, Kivity S, Afawi Z, Zuberi SM, Hughes JN, Pridmore C, Hodgson BL, Iona X, Sadleir LG, Pelekanos J, Herlenius E, Goldberg-Stern H, Bassan H, Haan E, Korczyn AD, Gardner AE, Corbett MA, Gecz J, Thomas PQ, Mulley JC, Berkovic SF, Scheffer IE, Dibbens LM

タイトル

PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome.

雑誌

Am J Hum Genet 90:152-60 (2012)
DOI:10.1016/j.ajhg.2011.12.003

文献

PMID:15048894

著者

Berkovic SF, Heron SE, Giordano L, Marini C, Guerrini R, Kaplan RE, Gambardella A, Steinlein OK, Grinton BE, Dean JT, Bordo L, Hodgson BL, Yamamoto T, Mulley JC, Zara F, Scheffer IE

タイトル

Benign familial neonatal-infantile seizures: characterization of a new sodium channelopathy.

雑誌

Ann Neurol 55:550-7 (2004)
DOI:10.1002/ana.20029

文献

PMID:16417554

著者

Striano P, Bordo L, Lispi ML, Specchio N, Minetti C, Vigevano F, Zara F

タイトル

A novel SCN2A mutation in family with benign familial infantile seizures.

雑誌

Epilepsia 47:218-20 (2006)
DOI:10.1111/j.1528-1167.2006.00392.x

文献

PMID:26677014

著者

Gardella E, Becker F, Moller RS, Schubert J, Lemke JR, Larsen LH, Eiberg H, Nothnagel M, Thiele H, Altmuller J, Syrbe S, Merkenschlager A, Bast T, Steinhoff B, Nurnberg P, Mang Y, Bakke Moller L, Gellert P, Heron SE, Dibbens LM, Weckhuysen S, Dahl HA, Biskup S, Tommerup N, Hjalgrim H, Lerche H, Beniczky S, Weber YG

タイトル

Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutation.

雑誌

Ann Neurol 79:428-36 (2016)
DOI:10.1002/ana.24580

LinkDB

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