ELIZA

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378430 occurrences (No.48 in the rank) during 5 years in the PubMed. [cache]

233) 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.

--- 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.

--- ABSTRACT END ---

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(1)32 time	(19)5 meaningful	(37)2 5	(55)2 marriage
(2)21 report	(20)4 line	(38)2 6	(56)2 meta-analysis
(3)11 and	(21)3 14	(39)2 72	(57)2 mitochondrial
(4)11 to	(22)3 3	(40)2 application	(58)2 months
(5)10 time,	(23)3 complete	(41)2 approach	(59)2 myocardial
(6)9 year	(24)3 described	(42)2 article	(60)2 postnatal
(7)8 2	(25)3 in	(43)2 attempt	(61)2 presented
(8)8 molar	(26)3 it	(44)2 choice	(62)2 relapse
(9)8 reported	(27)3 order	(45)2 clinical	(63)2 smear
(10)8 step	(28)3 postoperative	(46)2 component	(64)2 stage
(11)8 we	(29)3 record	(47)2 comprehensive	(65)2 step,
(12)7 case	(30)3 sequenced	(48)2 concern	(66)2 test
(13)6 determined	(31)3 the	(49)2 course	(67)2 that
(14)6 group	(32)3 treatment	(50)2 demonstration	(68)2 therapy
(15)6 study	(33)3 two	(51)2 few	(69)2 trimester
(16)5 dose	(34)3 was	(52)2 intentions	(70)2 trimester,
(17)5 evidence	(35)2 null	(53)2 introduction	(71)2 using
(18)5 generation	(36)2 30	(54)2 left

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--- WordNet output for first --- =>初めて, 最初の, 第一の, はじめに, 最初, 第1 Overview of noun first The noun first has 6 senses (first 4 from tagged texts) 1. (9) first, number one -- (the first or highest in an ordering or series; "He wanted to be the first") 2. (5) first, number one, number 1 -- (the first element in a countable series; "the first of the month") 3. (1) beginning, commencement, first, outset, get-go, start, kickoff, starting time, showtime, offset -- (the time at which something is supposed to begin; "they got an early start"; "she knew from the get-go that he was the man for her") 4. (1) first base, first -- (the fielding position of the player on a baseball team who is stationed at first of the bases in the infield (counting counterclockwise from home plate)) 5. first, first-class honours degree -- (an honours degree of the highest class) 6. first gear, first, low gear, low -- (the lowest forward gear ratio in the gear box of a motor vehicle; used to start a car moving) Overview of adj first The adj first has 6 senses (first 5 from tagged texts) 1. (232) first -- (preceding all others in time or space or degree; "the first house on the right"; "the first day of spring"; "his first political race"; "her first baby"; "the first time"; "the first meetings of the new party"; "the first phase of his training") 2. (61) first, 1st -- (indicating the beginning unit in a series) 3. (4) inaugural, initiative, initiatory, first, maiden -- (serving to set in motion; "the magazine's inaugural issue"; "the initiative phase in the negotiations"; "an initiatory step toward a treaty"; "his first (or maiden) speech in Congress"; "the liner's maiden voyage") 4. (4) beginning, first -- (serving to begin; "the beginning canto of the poem"; "the first verse") 5. (3) first, foremost, world-class -- (ranking above all others; "was first in her class"; "the foremost figure among marine artists"; "the top graduate") 6. first -- (highest in pitch or chief among parts or voices or instruments or orchestra sections; "first soprano"; "the first violin section"; "played first horn") Overview of adv first The adv first has 4 senses (first 4 from tagged texts) 1. (58) first, firstly, foremost, first of all, first off -- (before anything else; "first we must consider the garter snake") 2. (40) first, for the first time -- (the initial time; "when Felix first saw a garter snake") 3. (9) first -- (before another in time, space, or importance; "I was here first"; "let's do this job first") 4. (4) foremost, first -- (prominently forward; "he put his best foot foremost") --- WordNet end ---