ELIZA

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403337 occurrences (No.43 in the rank) during 5 years in the PubMed. [no cache] 500 found

187) The authors describe 2 patients with early infantile epileptic encephalopathy caused by 2 novel mutations involving the STXBP1 gene.

--- ABSTRACT ---

PMID:23533165 DOI:10.1177/0883073813479169

2015 Journal of child neurology

* Novel STXBP1 mutations in 2 patients with early infantile epileptic encephalopathy.

- The authors describe 2 patients with early infantile epileptic encephalopathy caused by 2 novel mutations involving the STXBP1 gene. The authors suggest that in spite of the rarity of STXBP1 mutations, molecular analysis of STXBP1 gene should be performed in patients with early infantile epileptic encephalopathy, after exclusion of ARX mutations in male patients and CDKL5 mutations in female patients. The potential mechanisms explaining the variable clinical phenotypes caused by STXBP1 mutations are discussed and the designation of early-onset epileptic encephalopathies, including an updated genetic classification, is proposed to encompass the epileptic encephalopathies beginning in the first 6 months of life.

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(1)75 expression	(15)5 of	(29)3 block	(43)2 mutation
(2)34 order	(16)5 transfer	(30)3 can	(44)2 on
(3)32 arrangement	(17)5 were	(31)3 contents	(45)2 overlap
(4)31 and	(18)4 activation	(32)3 polymorphisms	(46)2 peptide
(5)21 null	(19)4 delivery	(33)3 sequencing	(47)2 profiling
(6)15 was	(20)4 encoding	(34)3 transcription	(48)2 regions
(7)12 expression,	(21)4 expressions	(35)2 analysis	(49)2 sequence
(8)9 arrangement,	(22)4 fragments	(36)2 carriers	(50)2 sequences,
(9)7 composition	(23)4 is	(37)2 cluster	(51)2 spookier
(10)7 organization	(24)4 silencing	(38)2 clusters	(52)2 synteny
(11)7 sequences	(25)4 to	(39)2 content	(53)2 therapy,
(12)5 flow	(26)4 which	(40)2 family	(54)2 used
(13)5 for	(27)3 alterations	(41)2 from	(55)2 uses
(14)5 in	(28)3 as	(42)2 has

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--- WordNet output for gene --- =>遺伝子 Overview of noun gene The noun gene has 1 sense (no senses from tagged texts) 1. gene, cistron, factor -- ((genetics) a segment of DNA that is involved in producing a polypeptide chain; it can include regions preceding and following the coding DNA as well as introns between the exons; it is considered a unit of heredity; "genes were formerly called factors") --- WordNet end ---