1305ｨｨｨｪ010806ｨｬ 010200ｨｨ02ｨｨｨｰｨ ｨｰ08ｨ ｨｪ09070608ｨｰ0208ｨ 000506ｨｺ060404 I ｨｰｨｨ07ｨ (ｨ 06050204ｨｪｨｹ 0102 00ｨｨ0906): ｨｺ05ｨｨｨｪｨｨ ﾂ0209ｨｺｨｨ02 ｨｨ 0002ｨｪ02ｨｰｨｨ ﾂ0209ｨｺｨｨ02 ｨ 090702ｨｺｨｰ04 080603ｨ ｨｪ0609ｨ 06.00. 1,2, 04ｨｨ05ｨｨｨｪｨ 05.05. 1,2, 0002ｨｴ020807ｨｺ0609ｨ 06.06. 1, 08ｨｦ09ｨ 0407ｨｪ 05.02. 1, 0209ｨｨ070609ｨ 08.00. 1, 05ｨｮ03ｨｺ06 09.00. 1, 09ｨｮｨｺｨｹ07ｨｪ0609ｨ 03.01. 1, 0308ｨｨｨｰ04ｨｺ06 08.01. 1,2 1 ｪ 01090705 00010300 09070202ｨｨｨ 05ｨｨ04ｨｨ080609ｨ ｨｪｨｪ06ｨｦ ｨｬ0201ｨｨ02ｨｨｨｪ09ｨｺ06ｨｦ 0706ｨｬ06ｨｴｨｨ 0102ｨｰ07ｨｬ ｨｨｨｬ. 00.08. 0006ｨｦｨｪ06-080902ｨｪ0202ｨｺ060006 02050003, 000609ｨｺ09ｨ, 04060909ｨｨ07 2 ｪ 01090207 000302 04060909ｨｨｨｦ09ｨｺｨｨｨｦ ｨｪｨ 02ｨｨ06ｨｪｨ 05ｨｹｨｪ04ｨｦ ｨｨ09090502010609ｨ ｨｰ0205ｨｹ09ｨｺｨｨｨｦ ｨｬ0201ｨｨ02ｨｨｨｪ09ｨｺｨｨｨｦ ｨｮｨｪｨｨ09020809ｨｨｨｰ02ｨｰ ｨｨｨｬ. 01.06. 03ｨｨ0806000609ｨ 0005 0408, 000609ｨｺ09ｨ, 04060909ｨｨ07 00 09ｨｰｨ ｨｰｨｹ02 0708ｨｨ090601ｨｨｨｰ0907 0607ｨｨ09ｨ ｨｪｨｨ02 4 ｨｺ05ｨｨｨｪｨｨ ﾂ0209ｨｺｨｨ01 0905ｨｮ ﾂｨ 0209 09ｨｨｨｪ010806ｨｬｨ 010200ｨｨ02ｨｨｨｰｨ ｨｰ08ｨ ｨｪ09070608ｨｰ0208ｨ 000506ｨｺ060404 ｨｰｨｨ07 1 (09ｨｨｨｪ010806ｨｬ 010200ｨｨ02ｨｨｨｰｨ GLUT1, ｨ 06050204ｨｪｨｹ 0102 00ｨｨ0906) ｨｮ 0102ｨｰ02ｨｦ, 070609ｨｰｨｮ07ｨｨ0903ｨｨ01 09 0709ｨｨ0106ｨｪ02090806050600ｨｨ ﾂ0209ｨｺ0602 06ｨｰ01020502ｨｪｨｨ02 010300 09070202ｨｨｨ 05ｨｨ04ｨｨ080609ｨ ｨｪｨｪ06ｨｦ ｨｬ0201ｨｨ02ｨｨｨｪ09ｨｺ06ｨｦ 0706ｨｬ06ｨｴｨｨ 0102ｨｰ07ｨｬ 020500. 00 01060102 06ｨ 090502010609ｨ ｨｪｨｨ07 01ｨｨｨ 00ｨｪ0609ｨｰｨｨ080609ｨ ｨｪ04 00ｨ 08ｨｬｨ ｨｺ06080204ｨｨ09ｨｰ02ｨｪｨｰｨｪｨ 07 0507ｨｨ05020709ｨｨ07, 0109ｨｨ00ｨ ｨｰ0205ｨｹｨｪ0402 08ｨ 0909ｨｰ0806ｨｦ09ｨｰ09ｨ, 06ｨｰ09ｨｰｨ 09ｨ ｨｪｨｨ02 09 0709ｨｨ0106ｨｬ06ｨｰ0608ｨｪ06ｨｬ ｨｨ ｨｨｨｪｨｰ02050502ｨｺｨｰｨｮｨ 05ｨｹｨｪ06ｨｬ 08ｨ 0409ｨｨｨｰｨｨｨｨ; 09ｨｪｨｨ0302ｨｪｨｨ02ｨｬ ｨｮ080609ｨｪ07 000506ｨｺ060404 09 0907ｨｨｨｪｨｪ06ｨｬ060400060906ｨｦ 03ｨｨ01ｨｺ0609ｨｰｨｨ. 0308ｨｨ 07080609020102ｨｪｨｨｨｨ ｨｰｨ 080002ｨｰｨｪ060006 0902ｨｺ0902ｨｪｨｨ080609ｨ ｨｪｨｨ07 ｨｮ 09090201 07ｨ 02ｨｨ02ｨｪｨｰ0609 06ｨ ｨｪｨ 08ｨｮ0302ｨｪ04 08ｨ 0405ｨｨ ﾂｨｪ0402 ｨｰｨｨ0704 ｨｬｨｮｨｰｨ 02ｨｨｨｦ 09 0002ｨｪ02 SLC2A1, 06ｨｰ0902ｨｰ09ｨｰ0902ｨｪｨｪ0401 04ｨ 08ｨ 0409ｨｨｨｰｨｨ02 09ｨｨｨｪ010806ｨｬｨ 010200ｨｨ02ｨｨｨｰｨ GLUT1. 0906050204ｨｪｨｹ 0102 00ｨｨ0906 01ｨ 08ｨ ｨｺｨｰ0208ｨｨ04ｨｮ02ｨｰ0907 08ｨ 0409ｨｨｨｰｨｨ02ｨｬ 08ｨ ｨｪｨｪ02ｨｦ 0102ｨｰ09ｨｺ06ｨｦ 05ｨｪ020200ｨ 050607ｨ ｨｰｨｨｨｨ, 09ｨｨｨｬ07ｨｰ06ｨｬｨ ｨｰｨｨ ﾂ0209ｨｺ06ｨｦ 0507ｨｨ05020709ｨｨｨｨ 09 080204ｨｨ09ｨｰ02ｨｪｨｰｨｪ0609ｨｰｨｹ06 ｨｺ 070806ｨｰｨｨ09060507ｨｨ050207ｨｰｨｨ ﾂ0209ｨｺｨｨｨｬ 07080207ｨ 08ｨ ｨｰｨ ｨｬ, 000608ｨｬｨｨ080609ｨ ｨｪｨｨ02ｨｬ ｨｬｨｨｨｺ0806020200ｨ 05ｨｨｨｨ, 0709ｨｨ0106ｨｬ06ｨｰ0608ｨｪ06ｨｦ 04ｨ 01020803ｨｺ06ｨｦ 0906 0907ｨ 09ｨｰｨｨ ﾂｨｪ0609ｨｰｨｹ06, ｨ ｨｰｨ ｨｺ09ｨｨ02ｨｦ, 01ｨｨ04ｨ 08ｨｰ08ｨｨ02ｨｦ ｨｨ ｨ 05ｨｹｨｰ02ｨｪｨｨ08ｨｮ06ｨｴ02ｨｦ 0002ｨｬｨｨ07050200ｨｨ02ｨｦ ｨｨ 09ｨｪｨｨ0302ｨｪｨｨ02ｨｬ ｨｮ080609ｨｪ07 000506ｨｺ060404 09 05ｨｨｨｺ09060802. 00 ｨｪｨ 09ｨｰ0607ｨｴ0202 090802ｨｬ07 ｨｺ02ｨｰ060002ｨｪｨｪｨ 07 01ｨｨ02ｨｰｨ 0709050702ｨｰ0907 090209ｨｹｨｬｨ 05000002ｨｺｨｰｨｨ09ｨｪ04ｨｬ ｨｬ02ｨｰ060106ｨｬ 07ｨ ｨｰ060002ｨｪ02ｨｰｨｨ ﾂ0209ｨｺ06ｨｦ ｨｰ0208ｨ 07ｨｨｨｨ, 0706040906050706ｨｴｨｨｨｬ ｨｮｨｬ02ｨｪｨｹ03ｨｨｨｰｨｹ ｨｺ05ｨｨｨｪｨｨ ﾂ0209ｨｺｨｨ02 07080607090502ｨｪｨｨ07: ｨｺｨｮ07ｨｨ080609ｨ ｨｰｨｹ 09ｨｮ0106080600ｨｨ, ｨｮ05ｨｮ ﾂ03ｨｨｨｰｨｹ 0802 ﾂｨｹ ｨｨ 0109ｨｨ0302ｨｪｨｨ07. 080506 ﾂ02090402 09050609ｨ : 09ｨｨｨｪ010806ｨｬ 010200ｨｨ02ｨｨｨｰｨ GLUT1, 0507ｨｨ05020709ｨｨ07, ｨ 05ｨｹｨｰ0208ｨｪｨｨ08ｨｮ06ｨｴｨ 07 0002ｨｬｨｨ07050200ｨｨ07, 01ｨｨ04ｨ 08ｨｰ08ｨｨ07, ｨｬｨｨｨｺ0806020200ｨ 05ｨｨ07, ｨｰｨ 080002ｨｰｨｪ0602 0902ｨｺ0902ｨｪｨｨ080609ｨ ｨｪｨｨ02 0009020102ｨｪｨｨ02 05ｨｨｨｪ010806ｨｬ 010200ｨｨ02ｨｨｨｰｨ ｨｰ08ｨ ｨｪ09070608ｨｰ0208ｨ 000506ｨｺ060404 ｨｰｨｨ07 1 (GLUT1 deficiency syndrome, ｨ 06050204ｨｪｨｹ 0102 00ｨｨ0906, OMIM #606777, ORPHA71277) 01ｨ 08ｨ ｨｺｨｰ0208ｨｨ04ｨｮ02ｨｰ0907 08ｨ 0409ｨｨｨｰｨｨ02ｨｬ 08ｨ ｨｪｨｪ02ｨｦ 0102ｨｰ09ｨｺ06ｨｦ 05ｨｪ020200ｨ 050607ｨ ｨｰｨｨｨｨ, 09ｨｨｨｬ07ｨｰ06ｨｬｨ ｨｰｨｨ ﾂ0209ｨｺ06ｨｦ 0507ｨｨ05020709ｨｨｨｨ 09 080204ｨｨ09ｨｰ02ｨｪｨｰｨｪ0609ｨｰｨｹ06 ｨｺ 070806ｨｰｨｨ09060507ｨｨ050207ｨｰｨｨ ﾂ0209ｨｺｨｨｨｬ 07080207ｨ 08ｨ ｨｰｨ ｨｬ, 000608ｨｬｨｨ080609ｨ ｨｪｨｨ02ｨｬ ｨｬｨｨｨｺ0806020200ｨ 05ｨｨｨｨ, 0709ｨｨ0106ｨｬ06ｨｰ0608ｨｪ06ｨｦ 04ｨ 01020803ｨｺ06ｨｦ 0906 0907ｨ 09ｨｰｨｨ ﾂｨｪ0609ｨｰｨｹ06, ｨ ｨｰｨ ｨｺ09ｨｨ02ｨｦ, 01ｨｨ04ｨ 08ｨｰ08ｨｨ02ｨｦ ｨｨ ｨ 05ｨｹｨｰ0208ｨｪｨｨ08ｨｮ06ｨｴ02ｨｦ 0002ｨｬｨｨ07050200ｨｨ02ｨｦ [1, 2]. 04ｨ 0907080609ｨｰ08ｨ ｨｪ02ｨｪｨｪ0609ｨｰｨｹ 01ｨ ｨｪｨｪ06ｨｦ 07ｨ ｨｰ06050600ｨｨｨｨ 09 ｨｪｨ 09ｨｰ0607ｨｴ0202 090802ｨｬ07 ｨｪ02ｨｨ04090209ｨｰｨｪｨ. 05ｨｨｨｪ010806ｨｬ 010200ｨｨ02ｨｨｨｰｨ GLUT1 09070208090402 ｨ 0405 0607ｨｨ09ｨ ｨｪ 09 1991 00. [3]. 05 ｨｰ060006 090802ｨｬ07 09 ｨｬｨｨ0802 ｨ 040506 090407090502ｨｪ06 100 07ｨ 02ｨｨ02ｨｪｨｰ0609 [4 ｪ6]. 05ｨｨｨｪ010806ｨｬ 010200ｨｨ02ｨｨｨｰｨ GLUT1 0708020109ｨｰｨ 090502ｨｪ 0109ｨｮｨｬ07 ｨｺ05ｨｨｨｪｨｨ ﾂ0209ｨｺｨｨｨｬｨｨ 000608ｨｬｨ ｨｬｨｨ: 1 7 ｨｺ05ｨ 0909ｨｨ ﾂ0209ｨｺｨ 07 000608ｨｬｨ (1 790% ｨ 0605ｨｹｨｪ0401). 05ｨｮ0106080600ｨｨ 06ｨ 04 ﾂｨｪ06 ｨｪｨ ﾂｨｨｨｪｨ 06ｨｰ0907 09 09060408ｨ 09ｨｰ02 06ｨｰ 1 ｨｬ02090702ｨ 0106 2 0502ｨｰ 09 1 790%, ｨ 09 09060408ｨ 09ｨｰ02 09ｨｰｨ 080302 2 0502ｨｰ ｪ 09 1 710% 0905ｨｮ ﾂｨ 0209. 02ｨ ｨｪｨｪｨ 07 000608ｨｬｨ 09ｨｨｨｪ010806ｨｬｨ 01ｨ 08ｨ ｨｺｨｰ0208ｨｨ04ｨｮ02ｨｰ0907 04ｨ 01020803ｨｺ06ｨｦ 0709ｨｨ0106ｨｪ02090806050600ｨｨ ﾂ0209ｨｺ060006 08ｨ 0409ｨｨｨｰｨｨ07, 01ｨｨ04ｨ 08ｨｰ08ｨｨ02ｨｦ, 000608ｨｬｨｨ080609ｨ ｨｪｨｨ02ｨｬ ｨｬｨｨｨｺ0806020200ｨ 05ｨｨｨｨ ｨｨ 0109ｨｨ00ｨ ｨｰ0205ｨｹｨｪ0401 08ｨ 0909ｨｰ0806ｨｦ09ｨｰ09, 09ｨｺ0506 ﾂｨ 07 ｨ ｨｰｨ ｨｺ09ｨｨ06, ｨ 05ｨｹｨｰ0208ｨｪｨｨ08ｨｮ06ｨｴｨｮ06 0002ｨｬｨｨ07050200ｨｨ06, 00ｨｨ070208ｨｨｨｺｨｨｨｪ020404 0706 ｨｰｨｨ07ｨｮ 01ｨｨ09ｨｰ06ｨｪｨｨｨｨ ｨｨ 01060802ｨｨ [5, 6]; 1 7 ｨｪ020507ｨｨ050207ｨｰｨｨ ﾂ0209ｨｺｨ 07 000608ｨｬｨ (1 710 ｪ15% ｨ 0605ｨｹｨｪ0401). 03ｨ 02ｨｨ02ｨｪｨｰ04 ｨｨｨｬ0206ｨｰ ｨ 06050202 ｨｬ0700ｨｺｨｨｨｦ 0002ｨｪ06ｨｰｨｨ07 ｨ 0204 09ｨｮ0106080603ｨｪ060006 09ｨｨｨｪ010806ｨｬｨ, ｨｪ06 09 0708ｨｺ06 090408ｨ 0302ｨｪｨｪ04ｨｬｨｨ 07ｨ 0806ｨｺ09ｨｨ04ｨｬｨ 05ｨｹｨｪ04ｨｬｨｨ 01ｨｨ09ｨｺｨｨｨｪ0204ｨｨ07ｨｬｨｨ, 09ｨｺ0506 ﾂｨ 07 07020802ｨｬ0203ｨ 06ｨｴｨｮ060907 ｨ ｨｰｨ ｨｺ09ｨｨ06, 0106080206ｨ ｨｰ02ｨｰ0604, 01ｨｨ09ｨｰ06ｨｪｨｨ06, ｨｨ ｨ 05ｨｹｨｰ0208ｨｪｨｨ08ｨｮ06ｨｴｨｮ06 0002ｨｬｨｨ07050200ｨｨ06 [7 ｪ9]. 0805ｨｨｨｪｨｨ ﾂ0209ｨｺｨｨ02 09ｨｨｨｬ07ｨｰ06ｨｬ04 09ｨｨｨｪ010806ｨｬｨ 010200ｨｨ02ｨｨｨｰｨ GLUT1 070806090602ｨｨ08ｨｮ06ｨｰ0907 00ｨｨ04ｨｨ ﾂ0209ｨｺ06ｨｦ ｨｪｨ 0008ｨｮ04ｨｺ06ｨｦ, 000605060106ｨｬ ｨｨ05ｨｨ ｨｮ090205ｨｨ ﾂ02ｨｪｨｨ02ｨｬ 070806ｨｬ0203ｨｮｨｰｨｺ0609 ｨｬ020301ｨｮ 0708ｨｨ02ｨｬｨ ｨｬｨｨ 07ｨｨｨｴｨｨ 09 ｨｪ02ｨｺ06ｨｰ060804ｨｬ ｨｮ05ｨｮ ﾂ0302ｨｪｨｨ02ｨｬ 090609ｨｰ0607ｨｪｨｨ07 0706090502 020104. 03ｨ 02ｨｨ02ｨｪｨｰ04 09 ｨｺ05ｨ 0909ｨｨ ﾂ0209ｨｺｨｨｨｬ ｨｰ02 ﾂ02ｨｪｨｨ02ｨｬ 09ｨｨｨｪ010806ｨｬｨ 010200ｨｨ02ｨｨｨｰｨ GLUT1, 0806030102ｨｪｨｪ0402 0706090502 00ｨｨ04ｨｨ06050600ｨｨ ﾂ0209ｨｺｨｨ 070806ｨｰ02ｨｺｨ 090302ｨｦ ｨ 020802ｨｬ02ｨｪｨｪ0609ｨｰｨｨ ｨｨ 0806010609, ｨｨｨｬ0206ｨｰ ｨｪ0608ｨｬｨ 05ｨｹｨｪｨｮ06 ｨｬｨ 0909ｨｮ ｨｰ0205ｨ 0708ｨｨ 0806030102ｨｪｨｨｨｨ ｨｨ 09040906ｨｺｨｮ06 060202ｨｪｨｺｨｮ 0706 03ｨｺｨ 0502 080700ｨ 08 [9 ｪ11]. 05ｨｮ0106080603ｨｪ04ｨｦ 09ｨｨｨｪ010806ｨｬ 0308ｨｨ09ｨｰｨｮ0704 0708ｨｨ 08ｨ ｨｪｨｪ02ｨｦ ｨｺ05ｨ 0909ｨｨ ﾂ0209ｨｺ06ｨｦ 000608ｨｬ02 09ｨｨｨｪ010806ｨｬｨ 010200ｨｨ02ｨｨｨｰｨ GLUT1, ｨｺ06ｨｰ06080402 06ｨ 04 ﾂｨｪ06 ｨｪｨ ﾂｨｨｨｪｨ 02ｨｰ0907 09 09060408ｨ 09ｨｰ02 0601ｨｪ060006 ｪ 030209ｨｰｨｨ ｨｬ020907020209, ﾂｨ 09ｨｰ06 0709050706ｨｰ0907 0702080904ｨｬ ｨｺ05ｨｨｨｪｨｨ ﾂ0209ｨｺｨｨｨｬ 0708ｨｨ04ｨｪｨ ｨｺ06ｨｬ 01ｨｨ0900ｨｮｨｪｨｺ02ｨｨｨｨ ｨｬ060400ｨ. 07 ｨｪ02ｨｺ06ｨｰ06080401 0102ｨｰ02ｨｦ ｨｪｨ ﾂｨ 05ｨｮ 09ｨｮ0106080603ｨｪ060006 09ｨｨｨｪ010806ｨｬｨ ｨｬ0600ｨｮｨｰ 07080201030209ｨｰ090609ｨ ｨｰｨｹ 0507ｨｨ04060104 ｨ 07ｨｪ0605 ｨｨ ｨ ｨｪ06ｨｬｨ 05ｨｹｨｪ0402 0109ｨｨ0302ｨｪｨｨ07 0005ｨ 04ｨｪ0401 07ｨ 0506ｨｺ, ｨｪ0206ｨｰ05ｨｨ ﾂｨｨｨｬ0402 06ｨｰ 06070906ｨｺ0506ｨｪｨｮ09. 06ｨｪ00ｨ ｨｪｨｰｨｨ05ｨｹｨｪ0402 06 ﾂｨ 0006090402 09ｨｮ0106080600ｨｨ ｨｬ0600ｨｮｨｰ 09ｨｺ0506 ﾂｨ ｨｰｨｹ 09 0902ｨ 07 07ｨ 0806ｨｺ09ｨｨ04ｨｬｨ 05ｨｹｨｪ0402 0109ｨｨ0302ｨｪｨｨ07 0005ｨ 04, ｨ ｨｰｨ ｨｺ0302 ｨ ｨ 09ｨ ｨｪ0904 ｨｨ ｨ ｨｰ06ｨｪｨｨ ﾂ0209ｨｺｨｨ02 0708ｨｨ09ｨｰｨｮ0704. 060502ｨｺｨｰ080605ｨｪ020200ｨ 05060008ｨ ｨｬｨｬｨ (060601) 0706ｨｺｨ 040409ｨ 02ｨｰ ｨｬｨｮ05ｨｹｨｰｨｨ0006ｨｺｨ 05ｨｹｨｪ0402 0907ｨ ｨｦｨｺ-08ｨ 0408070104. 0308ｨｨ 01ｨ 05ｨｹｨｪ02ｨｦ0302ｨｬ 090604080209ｨ ｨｪｨｨ07 ｨｬ060400ｨ, 0708ｨｨ09ｨｰｨｮ0704 09ｨｰｨ ｨｪ060907ｨｰ0907 09ｨｨｨｪ010806ｨｪｨｨ04ｨｨ080609ｨ ｨｪｨｪ04ｨｬｨｨ ｨｨ ｨｺ05ｨｨｨｪｨｨ ﾂ0209ｨｺｨｨ ｨｬｨ ｨｪｨｨ000209ｨｰｨｨ08ｨｮ06ｨｰ ｨｺｨ ｨｺ 0002ｨｪ0208ｨ 05ｨｨ040609ｨ ｨｪｨｪ0402. 0207ｨｨ09ｨ ｨｪ04 ｨｪ0209ｨｺ0605ｨｹｨｺ06 ｨｰｨｨ070609 09ｨｮ0106080600: 0002ｨｪ0208ｨ 05ｨｨ040609ｨ ｨｪｨｪ0402 ｨｰ06ｨｪｨｨ ﾂ0209ｨｺｨｨ02 ｨｨ05ｨｨ ｨｺ0506ｨｪｨｨ ﾂ0209ｨｺｨｨ02, 0006ｨｺｨ 05ｨｹｨｪ0402, ｨｬｨｨ06ｨｺ0506ｨｪｨｨ ﾂ0209ｨｺｨｨ02, ｨ ｨｰｨｨ07ｨｨ ﾂｨｪ0402 ｨ ｨ 09ｨ ｨｪ0904, ｨ ｨｰ06ｨｪｨｨ ﾂ0209ｨｺｨｨ02 ｨｨ ｨｪ02ｨｺ05ｨ 0909ｨｨ00ｨｨ02ｨｨ08ｨｮ02ｨｬ0402 [12]. 28
130003020600060105080808 0103010306060808. ｪ 2016. ｪ 017 ﾁｨ 09ｨｰ06ｨｰｨ 0708ｨｨ09ｨｰｨｮ070609 ｨｮ 07ｨ 02ｨｨ02ｨｪｨｰ0609 09ｨ 08ｨｹｨｨ08ｨｮ02ｨｰ 06ｨｰ 02030201ｨｪ0209ｨｪ0401 09ｨｮ0106080600 0106 0708ｨｨ09ｨｰｨｮ070609, ｨｺ06ｨｰ06080402 ｨｪｨ ｨ 050601ｨ 06ｨｰ0907 08ｨ 04 09 ｨｪ0209ｨｺ0605ｨｹｨｺ06 01ｨｪ02ｨｦ, ｨｪ02010205ｨｹ ｨｨ05ｨｨ ｨｬ020907020209 ｨｨ ｨｪ02 ｨｺ0608080205ｨｨ08ｨｮ02ｨｰ 09 ｨｰ07030209ｨｰｨｹ06 0002ｨｪ06ｨｰｨｨ07ｨ [12, 13]. 06ｨｪｨｰ02050502ｨｺｨｰｨｮｨ 05ｨｹｨｪ0402 ｨｪｨ 08ｨｮ0302ｨｪｨｨ07 07 09090201 07ｨ 02ｨｨ02ｨｪｨｰ0609 ｨｪｨ ｨ 050601ｨ 02ｨｰ0907 08ｨ 0405ｨｨ ﾂｨｪｨ 07 09ｨｰ020702ｨｪｨｹ 090408ｨ 0302ｨｪｨｪ0609ｨｰｨｨ ｨｪｨ 08ｨｮ0302ｨｪｨｨ07 0802 ﾂｨｨ. 02ｨｨ04ｨ 08ｨｰ08ｨｨ07 090607080609060301ｨ 02ｨｰ0907 ﾂ080204ｨｬ0208ｨｪ06 070802080409ｨｨ09ｨｰ06ｨｦ 0802 ﾂｨｹ06. 080600ｨｪｨｨｨｰｨｨ09ｨｪ0402 ｨｪｨ 08ｨｮ0302ｨｪｨｨ07 0708020109ｨｰｨ 090502ｨｪ04 ｨｪ020907060906ｨ ｨｪ0609ｨｰｨｹ06 0802ｨ 02ｨｪｨｺｨ ｨｺ 06ｨ ｨｮ ﾂ02ｨｪｨｨ06 09070506ｨｰｨｹ 0106 ｨｰ0703020506ｨｦ ｨｮｨｬ09ｨｰ0902ｨｪｨｪ06ｨｦ 06ｨｰ09ｨｰｨ 050609ｨｰｨｨ. 050602ｨｨｨ 05ｨｹｨｪ0602 ｨ 01ｨ 07ｨｰｨｨ09ｨｪ0602 070609020102ｨｪｨｨ02 09060108ｨ ｨｪ02ｨｪ06. 03ｨ 02ｨｨ02ｨｪｨｰ04 09 09ｨｨｨｪ010806ｨｬ06ｨｬ 010200ｨｨ02ｨｨｨｰｨ GLUT1, ｨｺｨ ｨｺ 0708ｨ 09ｨｨ0506, 010608060306 0708ｨｨ09070609ｨ ｨ 05ｨｨ09ｨ 06ｨｰ0907 ｨｺ 06ｨ ｨｴ0209ｨｰ09ｨｮ ｨｨ ｨｺ06ｨｪｨｰｨ ｨｺｨｰｨｨ08ｨｮ06ｨｰ 09 0108ｨｮ00ｨｨｨｬｨｨ 050601ｨｹｨｬｨｨ [4 ｪ6]. 0209ｨｨ00ｨ ｨｰ0205ｨｹｨｪ0402 08ｨ 0909ｨｰ0806ｨｦ09ｨｰ09ｨ 0209ｨｨ00ｨ ｨｰ0205ｨｹｨｪ0402 ｨｪｨ 08ｨｮ0302ｨｪｨｨ07 0708ｨｨ 09ｨｨｨｪ010806ｨｬ02 010200ｨｨ02ｨｨｨｰｨ GLUT1 0708020109ｨｰｨ 090502ｨｪ04 ｨ ｨｰｨ ｨｺ09ｨｨ02ｨｦ, 01ｨｨ09ｨｰ06ｨｪｨｨ02ｨｦ, 0106080202ｨｦ, ｨｨ ｨｬ0600ｨｮｨｰ ｨ 04ｨｰｨｹ ｨｪ02070802080409ｨｪ04ｨｬｨｨ ｨｨ05ｨｨ 07ｨ 0806ｨｺ09ｨｨ04ｨｬｨ 05ｨｹｨｪ04ｨｬｨｨ. 0209ｨｪ0609ｨｪ04ｨｬｨｨ 00ｨ ｨｺｨｰ0608ｨ ｨｬｨｨ, ｨｺ06ｨｰ06080402 070806090602ｨｨ08ｨｮ06ｨｰ ｨｨ05ｨｨ ｨｮ09ｨｨ05ｨｨ09ｨ 06ｨｰ ｨｨ01 07080607090502ｨｪｨｨ02, 0709050706ｨｰ0907 0105ｨｨｨｰ0205ｨｹｨｪ04ｨｦ 070208ｨｨ0601 0006050601ｨ ｨｪｨｨ07, 09ｨｰ08020909 ｨｨ ｨｨｨｪ0002ｨｺ02ｨｨ06ｨｪｨｪ0402 04ｨ ｨ 06050209ｨ ｨｪｨｨ07 [8, 11, 14]. 03ｨ 0806ｨｺ09ｨｨ04ｨｬｨ 05ｨｹｨｪｨ 07 01ｨｨ09ｨｺｨｨｨｪ0204ｨｨｨｨ ｨｨ 0507ｨｨ05020709ｨｨ07 (08ｨ ｨｪ0202 ｨｨ04090209ｨｰｨｪｨ 07 ｨｺｨ ｨｺ 01ｨｨ09ｨｰ06ｨｪｨｨ07 ｨｰｨｨ07 18 [15]) ｨｨ 07ｨ 0806ｨｺ09ｨｨ04ｨｬｨ 05ｨｹｨｪ04ｨｦ 0106080206ｨ ｨｰ02ｨｰ0604 0906 0907ｨ 09ｨｰｨｨ ﾂｨｪ0609ｨｰｨｹ06 (08ｨ ｨｪ0202 ｨｨ04090209ｨｰｨｪ04ｨｦ ｨｺｨ ｨｺ 01ｨｨ09ｨｰ06ｨｪｨｨ07 ｨｰｨｨ07 9 [DYT9] [14]) 09 ｨｪｨ 09ｨｰ0607ｨｴ0202 090802ｨｬ07 08ｨ 0909ｨｬｨ ｨｰ08ｨｨ09ｨ 06ｨｰ0907 ｨｺｨ ｨｺ ﾂｨ 09ｨｰｨｹ 0002ｨｪ06ｨｰｨｨ07ｨｨ ﾂ0209ｨｺ060006 090702ｨｺｨｰ08ｨ 09ｨｨｨｪ010806ｨｬｨ 010200ｨｨ02ｨｨｨｰｨ GLUT1. 0308ｨｨ ｨ ｨｨ0601ｨｨｨｬｨｨ ﾂ0209ｨｺ06ｨｬ ｨｨ09090502010609ｨ ｨｪｨｨｨｨ 0907ｨｨｨｪｨｪ06ｨｬ060400060906ｨｦ 03ｨｨ01ｨｺ0609ｨｰｨｨ (050004) ｨｮ 07ｨ 02ｨｨ02ｨｪｨｰ0609 09 09ｨｨｨｪ010806ｨｬ06ｨｬ 010200ｨｨ02ｨｨｨｰｨ GLUT1 06ｨｰｨｬ02 ﾂｨ 02ｨｰ0907 09ｨｪｨｨ0302ｨｪｨｨ02 ｨｮ080609ｨｪ07 000506ｨｺ060404 ｨｪｨｨ0302 07060806000609060006 ｨｮ080609ｨｪ07 ｪ 2,2 ｪ3,3 ｨｬｨｬ0605ｨｹ/05. 00060502ｨｺｨｮ050708ｨｪｨ 07 0002ｨｪ02ｨｰｨｨｨｺｨ SLC2A1 ｪ 0201ｨｨｨｪ09ｨｰ0902ｨｪｨｪ04ｨｦ 0002ｨｪ, 07ｨ ｨｰ060002ｨｪｨｪ0402 09ｨ 08ｨｨｨ ｨｪｨｰ04 09 ｨｺ06ｨｰ060806ｨｬ 09090704ｨ ｨｪ04 09 08ｨ 0409ｨｨｨｰｨｨ02ｨｬ 09ｨｨｨｪ010806ｨｬｨ 010200ｨｨ02ｨｨｨｰｨ GLUT1. 0102ｨｪ SLC2A1, ｨｺ0601ｨｨ08ｨｮ06ｨｴｨｨｨｦ ｨ 020506ｨｺ GLUT1, 090609ｨｰ06ｨｨｨｰ ｨｨ04 10 05ｨｺ0406ｨｪ0609 ｨｨ 9 ｨｨｨｪｨｰ0806ｨｪ0609, 0506ｨｺｨ 05ｨｨ04ｨｮ02ｨｰ0907 ｨｪｨ ｨｺ060806ｨｰｨｺ06ｨｬ 070502 ﾂ02 010806ｨｬ060906ｨｬ04 1 (1p34.2) [16]. 0207ｨｨ09ｨ ｨｪ06 ｨ 06050202 150 ｨｬｨｮｨｰｨ 02ｨｨｨｦ 09 0002ｨｪ02 SLC2A1, 0709050706ｨｴｨｨ010907 0708ｨｨ ﾂｨｨｨｪ06ｨｦ 09ｨｨｨｪ010806ｨｬｨ 010200ｨｨ02ｨｨｨｰｨ GLUT1 [8]. 03ｨ ｨｰ060002ｨｪｨｪ0402 09ｨ 08ｨｨｨ ｨｪｨｰ04 0708020109ｨｰｨ 090502ｨｪ04 ｨｬｨｨ090902ｨｪ09-, ｨｪ06ｨｪ0902ｨｪ09-ｨｬｨｮｨｰｨ 02ｨｨ07ｨｬｨｨ, ｨｪ02ｨ 0605ｨｹ03ｨｨｨｬｨｨ 09ｨｪｨｮｨｰ08ｨｨ0002ｨｪｨｪ04ｨｬｨｨ 0102050202ｨｨ07ｨｬｨｨ/ｨｨｨｪ09020802ｨｨ07ｨｬｨｨ, ｨ ｨｰｨ ｨｺ0302 09ｨ 08ｨｨｨ ｨｪｨｰｨ ｨｬｨｨ 09ｨ ｨｦｨｰ0609 090705ｨ ｨｦ09ｨｨｨｪ00ｨ (ｨｰｨ ｨ 05. 1). 00 ｨｨ09090502010609ｨ ｨｪｨｨｨｨ, 0904070605ｨｪ02ｨｪｨｪ06ｨｬ Leen et al., 2010 00., ｨｬｨｮｨｰｨ 02ｨｨｨｨ 09 0002ｨｪ02 SLC2A1 ｨ 0405ｨｨ 0607080201020502ｨｪ04 ｨｮ 54/132 (41%) 07ｨ 02ｨｨ02ｨｪｨｰ0609 09 09ｨｨｨｪ010806ｨｬ06ｨｬ 010200ｨｨ02ｨｨｨｰｨ GLUT1. 00 89% (48/54) 0905ｨｮ ﾂｨ 0209 07ｨ ｨｰ060002ｨｪｨｪ0402 09ｨ 08ｨｨｨ ｨｪｨｰ04 ｨ 0405ｨｨ 0708020109ｨｰｨ 090502ｨｪ04 ｨｬｨｨ090902ｨｪ09-, ｨｪ06ｨｪ0902ｨｪ09-ｨｬｨｮｨｰｨ 02ｨｨ07ｨｬｨｨ, 09ｨ 08ｨｨｨ ｨｪｨｰｨ ｨｬｨｨ 09ｨ ｨｦｨｰｨ 090705ｨ ｨｦ09ｨｨｨｪ00ｨ, 090109ｨｨ00ｨ 08ｨ ｨｬｨｺｨｨ 09 ﾂｨｨｨｰ0409ｨ ｨｪｨｨ07 ｨｨ ｨｨｨｪｨｨ02ｨｨｨ 02ｨｨｨｨ ｨｰ08ｨ ｨｪ09050702ｨｨｨｨ [8]. 07 11% (6/54) 07ｨ 02ｨｨ02ｨｪｨｰ0609 ｨｨ04ｨｬ02ｨｪ02ｨｪｨｨ07ｨｬｨｨ 09 0002ｨｪ02 ｨ 0405ｨｨ 09ｨｪｨｮｨｰ08ｨｨ0002ｨｪｨｪ0402 0102050202ｨｨｨｨ ｨｨ 01ｨｮ0705ｨｨｨｺｨ 02ｨｨｨｨ [8]. 00 ｨ 0605ｨｹ03ｨｨｨｪ09ｨｰ0902 0905ｨｮ ﾂｨ 0209 04ｨ ｨ 06050209ｨ ｨｪｨｨ02 09090704ｨ ｨｪ06 09 ｨｬｨｮｨｰｨ 02ｨｨ07ｨｬｨｨ 09 0002ｨｪ02 SLC2A1, 090604ｨｪｨｨｨｺ03ｨｨｨｬｨｨ de novo. 00 ﾂｨ 09ｨｰｨｨ 0905ｨｮ- ﾂｨ 0209 09ｨｨｨｪ010806ｨｬ 010200ｨｨ02ｨｨｨｰｨ GLUT1 ｪ 04ｨ ｨ 06050209ｨ ｨｪｨｨ02 09 ｨ ｨｮｨｰ060906ｨｬｨｪ06-0106ｨｬｨｨｨｪｨ ｨｪｨｰｨｪ04ｨｬ ｨｰｨｨ0706ｨｬ ｨｪｨ 090502010609ｨ ｨｪｨｨ07, 0708ｨｨ ｨｺ06ｨｰ060806ｨｬ 070608ｨ 0302ｨｪｨｪ04ｨｦ 080601ｨｨｨｰ0205ｨｹ (ｨｪ0609ｨｨｨｰ0205ｨｹ 07ｨ ｨｰ060002ｨｪｨｪ06ｨｦ ｨｬｨｮｨｰｨ 02ｨｨｨｨ 09 0002ｨｪ02 SLC2A1) ｨｬ060302ｨｰ ｨｨｨｬ02ｨｰｨｹ 050200ｨｺｨｮ06 000608ｨｬｨｮ 04ｨ ｨ 06050209ｨ ｨｪｨｨ07 [1, 2]. 0608ｨ ｨｪ09070608ｨｰ 0906010608ｨ 09ｨｰ090608ｨｨｨｬ0401 ｨｬ060502ｨｺｨｮ05 ﾂ02080204 ｨｰｨｺｨ ｨｪ02090402 ｨ ｨ 08ｨｹ020804 0708ｨｨ090502ｨｺｨ 02ｨｰ 070609040302ｨｪｨｪ04ｨｦ ｨｨｨｪｨｰ02080209 09 1952 00., ｨｺ060001ｨ Widdas et al. 070802010706050603ｨｨ05ｨｨ, ﾂｨｰ06 010507 070806ｨｪｨｨｨｺｨｪ060902ｨｪｨｨ07 000506ｨｺ060404 ﾂ02080204 ｨｬ02ｨｬｨ 08ｨ ｨｪｨｮ 0508ｨｨｨｰ080602ｨｨｨｰｨ ｨｪ0206ｨ 010601ｨｨｨｬ04 060906ｨ 0402 ｨ 0205ｨｺｨｨ-07020802ｨｪ0609 ﾂｨｨｨｺｨｨ 010507 06ｨ 050200 ﾂ02ｨｪｨｨ07 0202 01ｨｨ0000ｨｮ04ｨｨｨｨ. 00 070609050201ｨｪｨｨ02 01020907ｨｰｨｨ0502ｨｰｨｨ07 ｨ 0405ｨｨ 06ｨｰｨｺ0804ｨｰ04 0109ｨ 0609ｨｪ0609ｨｪ0401 0902ｨｬ02ｨｦ09ｨｰ09ｨ ｨｰ08ｨ ｨｪ09070608ｨｰ02080609 000506ｨｺ060404 [17]. 0201ｨｪｨｨｨｬ ｨｨ04 0609ｨｪ0609ｨｪ0401 0709050706ｨｰ0907 0906 ﾂ02ｨｰｨ ｨｪｨｪ0402 ｨｰ08ｨ ｨｪ09070608ｨｰ020804 000506ｨｺ060404 ｨｨ ｨｨ06ｨｪ0609 Na + (SGLT), ｨｨｨｪｨ ﾂ02 ｨｨ04090209ｨｰｨｪ0402 ｨｺｨ ｨｺ ｨ ｨｺｨｰｨｨ09ｨｪ0402 ｨｺ06ｨｰ08ｨ ｨｪ09070608ｨｰ020804 ｨｨ05ｨｨ 09ｨｨｨｬ070608ｨｰ020804. 00040102050706ｨｰ ｨｰ08ｨｨ ｨｰｨｨ07ｨ SGLT: SGLT1, SGLT2 ｨｨ SGLT3. SGLT1 (0506ｨｺｨｮ09 22q13.1) 06ｨｰ0902 ﾂｨ 02ｨｰ 04ｨ ｨ ｨ 090608ｨ 02ｨｨ06 000506ｨｺ060404 ｨｨ04 030205ｨｮ0106 ﾂｨｪ06-ｨｺｨｨ0302 ﾂｨｪ060006 ｨｰ08ｨ ｨｺｨｰｨ. SGLT2 (0506ｨｺｨｮ09 16p11.2), ｨｰｨ ｨｺ0302 06ｨ 0604ｨｪｨ ﾂｨ 02ｨｬ04ｨｦ ｨｺｨ ｨｺ SLC5A2), 09ｨｬ0209ｨｰ02 09 SGLT1, 06ｨｰ0902 ﾂｨ 02ｨｰ 04ｨ ｨ ｨ 090608ｨ 02ｨｨ06 000506ｨｺ060404 09 0706 ﾂ02 ﾂｨｪ0401 ｨｺｨ ｨｪｨ 05ｨｹ02ｨ 01. SGLT3 (0506ｨｺｨｮ09 22q12.2-q12.3) 0506ｨｺｨ 05ｨｨ04ｨｮ02ｨｰ0907 09 0705ｨ 04ｨｬｨ ｨｰｨｨ ﾂ0209ｨｺ06ｨｦ ｨｬ02ｨｬｨ 08ｨ ｨｪ02 ｨｪ02ｨｦ0806ｨｪ0609 ｨｺｨｨ0302 ﾂｨｪｨｨｨｺｨ ｨｨ 09ｨｺ020502ｨｰｨｪ0401 ｨｬ040302 [18]. 0208ｨｮ00ｨｨｨｬ ｨ 0605ｨｹ03ｨｨｨｬ 0902ｨｬ02ｨｦ09ｨｰ0906ｨｬ ｨ 0205ｨｺ0609-07020802ｨｪ0609 ﾂｨｨｨｺ0609 000506ｨｺ060404 0709050702ｨｰ0907 0008ｨｮ0707ｨ ｨ 0205ｨｺ0609 GLUT. 06ｨｰｨｨ ｨ 0205ｨｺｨｨ-ｨｰ08ｨ ｨｪ09070608ｨｰ020804 06ｨ 050200 ﾂｨ 06ｨｰ 07ｨ 0909ｨｨ09ｨｪｨｮ06 01ｨｨ0000ｨｮ04ｨｨ06 000506ｨｺ060404 ﾂ02080204 ｨｰｨｺｨ ｨｪ02090402 ｨ ｨ 08ｨｹ020804 07ｨｮｨｰ02ｨｬ 05ｨｪ02080006ｨｪ0204ｨ 09ｨｨ09ｨｨｨｬ0401 ｨｬ0201ｨ ｨｪｨｨ04ｨｬ0609. 00 0902080201ｨｨｨｪ02 1980-01 0006010609 Mueckler et al. 06ｨ ｨｪｨ 08ｨｮ03ｨｨ05ｨｨ ｨ 020506ｨｺ, ｨｺ06ｨｰ060804ｨｦ 06ｨ 050200 ﾂｨ 05 01ｨｨ0000ｨｮ04ｨｨ06 000506ｨｺ060404 ﾂ02080204 ｨｬ02ｨｬｨ 08ｨ ｨｪｨｮ ｨｺ0502ｨｰ06ｨｺ 0507ｨｨ010208ｨｬｨｨ09ｨ [19]. 0108ｨｮ0707ｨ 09ｨｺ0506 ﾂｨ 02ｨｰ 09 0902ｨ 07 12 ｨ 0205ｨｺ0609 GLUT. GLUT1 05ｨｺ090708020909ｨｨ08ｨｮ02ｨｰ0907 09 0508ｨｨｨｰ080602ｨｨｨｰｨ 01 ｨｨ 0006050609ｨｪ06ｨｬ ｨｬ06040002, GLUT2 ｨ 09090602ｨｨｨｨ080609ｨ ｨｪ 09 09ｨｨｨｪ010806ｨｬ06ｨｬ 08ｨ ｨｪｨｺ06ｨｪｨｨ ｪ 09ｨｨｨｺ0205ｨｹ, GLUT3 06ｨｰ0902 ﾂｨ 02ｨｰ 04ｨ 070806ｨｪｨｨｨｺｨｪ060902ｨｪｨｨ02 000506ｨｺ060404 ﾂ02080204 ｨｬ02ｨｬｨ 08ｨ ｨｪｨｮ ｨｪ02ｨｦ0806ｨｪｨ 05ｨｹｨｪ06ｨｦ 0705ｨ 04ｨｬ04, GLUT4 0709050702ｨｰ0907 ｨｨｨｪ09ｨｮ05ｨｨｨｪ-080200ｨｮ05ｨｨ08ｨｮ06ｨｴｨｨｨｬ ｨｰ08ｨ ｨｪ09070608ｨｰ020806ｨｬ 000506ｨｺ060404 03ｨｨ08060906ｨｦ ｨｰｨｺｨ ｨｪｨｨ, 0902080102 ﾂｨｪ06ｨｦ ｨｬ04030204 ｨｨ 09ｨｺ020502ｨｰｨｪ0401 ｨｬ040302, ｨｨ 06ｨｰ0902 ﾂｨ 02ｨｰ 04ｨ ｨｨｨｪ09ｨｮ05ｨｨｨｪ060706090802010609ｨ ｨｪｨｪ04ｨｦ ｨｰ08ｨ ｨｪ09070608ｨｰ 000506ｨｺ060404, GLUT5 05ｨｺ090708020909ｨｨ08ｨｮ02ｨｰ0907 09 ｨｺｨｨ0302 ﾂｨｪｨｨｨｺ02, ｨｰ0209ｨｰｨｨｨｺｨｮ05ｨ 01 ｨｨ 0706 ﾂｨｺｨ 01. 08ｨｮｨｪｨｺ02ｨｨ07 GLUT7 ｨｪｨ 01ｨ ｨｪｨｪ04ｨｦ ｨｬ06ｨｬ02ｨｪｨｰ ｨｪ02ｨｨ04090209ｨｰｨｪｨ [18 ｪ20]. 06ｨ ｨ 05ｨｨ02ｨ 1 ﾁｨ 09ｨｰ06ｨｰｨ 090407090502ｨｪｨｨ07 08ｨ 0405ｨｨ ﾂｨｪ0401 ｨｰｨｨ070609 07ｨ ｨｰ060002ｨｪｨｪ0401 09ｨ 08ｨｨｨ ｨｪｨｰ0609 09 0002ｨｪ02 SLC2A1 [8] 0102ｨｪ 0002ｨｰ0601 ｨｨ09090502010609ｨ ｨｪｨｨ07 02060507 07ｨ 02ｨｨ02ｨｪｨｰ0609 09 07ｨ ｨｰ060002ｨｪｨｪ04ｨｬｨｨ 09ｨ 08ｨｨｨ ｨｪｨｰｨ ｨｬｨｨ SLC2A1 0502ｨｺ0902ｨｪ09ｨｪ04ｨｦ ｨ ｨｪｨ 05ｨｨ04 48/54 (89%) 08ｨｪｨ 05ｨｨ04 0102050202ｨｨｨｦ/01ｨｮ0705ｨｨｨｺｨ 02ｨｨｨｦ 6/54 (11%) ISSN 2073-7998 29
13000102000403 06030901020902010606 0206080101020506060806 0108050903020506000301010409 090209030501030703 GLUT1 0709050702ｨｰ0907 0609ｨｪ0609ｨｪ04ｨｬ 07020802ｨｪ0609 ﾂｨｨｨｺ06ｨｬ 000506ｨｺ060404, 05ｨｺ090708020909ｨｨ08ｨｮ02ｨｰ0907 09 05ｨｪ0106ｨｰ0205ｨｨｨ 05ｨｹｨｪ0401 ｨｺ0502ｨｰｨｺｨ 01 090609ｨｮ010609, 0901060107ｨｴｨｨ01 09 090609ｨｰｨ 09 0002ｨｬｨ ｨｰ0605ｨｪ020200ｨ 05ｨｨ ﾂ0209ｨｺ060006 ｨ ｨ 08ｨｹ0208ｨ ｨｨ 06ｨｰ0902 ﾂｨ 02ｨｰ 04ｨ 070806ｨｪｨｨｨｺｨｪ060902ｨｪｨｨ02 000506ｨｺ060404, ｨｺ06ｨｰ0608ｨ 07 ｨｪ0206ｨ 010601ｨｨｨｬｨ 010507 07060101020803ｨ ｨｪｨｨ07 05ｨｪ02080002ｨｰｨｨ ﾂ0209ｨｺ060006 06ｨ ｨｬ02ｨｪｨ 09 0006050609ｨｪ06ｨｦ ｨｬ060400 [20]. 0207ｨｨ09ｨ ｨｪｨｨ02 ｨｺ05ｨｨｨｪｨｨ ﾂ0209ｨｺｨｨ01 0905ｨｮ ﾂｨ 0209 00 0709ｨｨ0106ｨｪ02090806050600ｨｨ ﾂ0209ｨｺ06ｨｬ 06ｨｰ01020502ｨｪｨｨｨｨ 01090705 0001ｨ ｨｮ ﾂｨｪ06-0708ｨ ｨｺｨｰｨｨ ﾂ0209ｨｺｨｨｨｦ 0202ｨｪｨｰ08 09070202ｨｨｨ 05ｨｨ04ｨｨ080609ｨ ｨｪｨｪ06ｨｦ ｨｬ0201ｨｨ02ｨｨｨｪ09ｨｺ06ｨｦ 0706ｨｬ06ｨｴｨｨ 0102ｨｰ07ｨｬ ｨｨｨｬ. 00.08. 0006ｨｦｨｪ06-080902ｨｪ0202ｨｺ060006 02050003 ｨｪｨ ｨ 050601ｨ 06ｨｰ0907 4 07ｨ 02ｨｨ02ｨｪｨｰｨ 09 070601ｨｰ090208030102ｨｪｨｪ04ｨｬ 09ｨｨｨｪ010806ｨｬ06ｨｬ 010200ｨｨ02ｨｨｨｰｨ ｨｰ08ｨ ｨｪ09070608ｨｰ0208ｨ 000506ｨｺ060404 I ｨｰｨｨ07ｨ (ｨ 06050204ｨｪｨｹ 0102 00ｨｨ0906), ｨ 09090602ｨｨｨｨ080609ｨ ｨｪｨｪ060006 09 ｨｬｨｮｨｰｨ 02ｨｨ07ｨｬｨｨ 09 0002ｨｪ02 SLC2A1 (ｨｰｨ ｨ 05. 2). 040204ｨｮ05ｨｹｨｰｨ ｨｰ04 ｨｺ05ｨｨｨｪｨｨ ﾂ0209ｨｺ060006 ｨｨ ｨｬ060502ｨｺｨｮ050708ｨｪ06-0002ｨｪ02ｨｰｨｨ ﾂ0209ｨｺ060006 ｨｰ0209ｨｰｨｨ080609ｨ ｨｪｨｨ07 07ｨ 02ｨｨ02ｨｪｨｰ0609 0708020109ｨｰｨ 090502ｨｪ04 09 ｨｰｨ ｨ 05. 2. 03ｨ 02ｨｨ02ｨｪｨｰｨｮ 1 07080609020102ｨｪ06 ｨｰｨ 080002ｨｰｨｪ0602 05ｨｺ0406ｨｬｨｪ060006 0902ｨｺ0902ｨｪｨｨ080609ｨ ｨｪｨｨ02 34 0002ｨｪ0609, ｨ 09090602ｨｨｨｨ080609ｨ ｨｪｨｪ0401 09 08ｨ ｨｪｨｪｨｨｨｬｨｨ 000608ｨｬｨ ｨｬｨｨ 0507ｨｨ050207ｨｰｨｨ ﾂ0209ｨｺ06ｨｦ 05ｨｪ020200ｨ 050607ｨ ｨｰｨｨ07ｨｬｨｨ 09 0002ｨｪ02ｨｰｨｨ ﾂ0209ｨｺ06ｨｦ 05ｨ ｨ 0608ｨ ｨｰ0608ｨｨｨｨ 010300 09070202ｨｨｨ 05ｨｨ04ｨｨ080609ｨ ｨｪｨｪ06ｨｦ ｨｬ0201ｨｨ02ｨｨｨｪ09ｨｺ06ｨｦ 0706ｨｬ06ｨｴｨｨ 0102ｨｰ07ｨｬ 020500. 000401020502ｨｪｨｨ02 0002ｨｪ06ｨｬｨｪ06ｨｦ 020108 ｨｨ04 0502ｨｦｨｺ0602ｨｨｨｰ0609 070208ｨｨ000208ｨｨ ﾂ0209ｨｺ06ｨｦ ｨｺ080609ｨｨ ｨｨ 070609050201ｨｮ06ｨｴ0202 ｨｰｨ 080002ｨｰｨｪ0602 05ｨｺ0406ｨｬｨｪ0602 0902ｨｺ0902ｨｪｨｨ080609ｨ ｨｪｨｨ02 0904070605ｨｪ02ｨｪ06 ｨｪｨ ｨ ｨｪｨ 05ｨｨ04ｨ ｨｰ0608ｨ 01 MagNA Pure LC 2.0 ｨｨ 454 Sequencing GS Junior (Roche) 090606ｨｰ0902ｨｰ09ｨｰ0902ｨｪｨｪ06. 020507 ｨ ｨｪｨ 05ｨｨ04ｨ ｨｨ04ｨｬ02ｨｪ02ｨｪｨｨｨｦ ｨｪｨｮｨｺ050206ｨｰｨｨ01ｨｪ06ｨｦ 0706090502010609ｨ ｨｰ0205ｨｹｨｪ0609ｨｰｨｨ 09 0002ｨｪｨ 01, 090407090502ｨｪｨｪ0401 09 01060102 08ｨ ｨ 06ｨｰ04, ｨｨ09070605ｨｹ040609ｨ 05ｨｨ09ｨｹ 010609ｨｰｨｮ07ｨｪ0402 ｨ ｨ 0404 01ｨ ｨｪｨｪ0401: OMIM, GeneReviews (NCBI), HGMD, LOVD, ClinVar (NCBI), ExAC Browser. 05 020205ｨｹ06 0708020109ｨｺｨ 04ｨ ｨｪｨｨ07 ｨｺ06ｨｪ09020809ｨ ｨｰｨｨ09ｨｪ0609ｨｰｨｨ ｨｨ 09ｨｰ020702ｨｪｨｨ 07ｨ ｨｰ060002ｨｪｨｪ0609ｨｰｨｨ, ｨｮｨｰ06 ﾂｨｪ02ｨｪｨｨ07 ｨｺ05ｨｨｨｪｨｨ ﾂ0209ｨｺ060006 04ｨｪｨ - ﾂ02ｨｪｨｨ07 09090201 090407090502ｨｪｨｪ0401 09ｨ 08ｨｨｨ ｨｪｨｰ0609 09 0002ｨｪｨ 01 ｨｨ09070605ｨｹ040609ｨ 05ｨｨ09ｨｹ 09070202ｨｨｨ 05ｨｨ04ｨｨ080609ｨ ｨｪｨｪ0402 ｨｨｨｪｨｰ0208ｨｪ02ｨｰ-080209ｨｮ080904: SIFT, MutationTaster ｨｨ PolyPhen-2. 02ｨ ｨｪｨ 08ｨｮ0302ｨｪｨｪｨ 07 ｨｬｨｮｨｰｨ 02ｨｨ07 09 0002ｨｪ02 SLC2A1 0708020109ｨｰｨ 090502ｨｪｨ ｨｨｨｪ09020802ｨｨ02ｨｦ (0909ｨｰｨ 09ｨｺ06ｨｦ) 0106070605ｨｪｨｨｨｰ0205ｨｹｨｪ0401 6 ｨｪｨｮｨｺ050206ｨｰｨｨ010609 09 0706090502010609ｨ ｨｰ0205ｨｹｨｪ0609ｨｰｨｹ ｪ c.1305-1306instgaaga (p.v435vfi). 00ｨｮｨｰｨ 02ｨｨ07 ｨｪ02 04ｨ 080200ｨｨ09ｨｰ08ｨｨ080609ｨ ｨｪｨ 09 ｨｺ06ｨｪｨｰ080605ｨｹｨｪ0401 0904ｨ 0608ｨｺｨ 01 001000 0002ｨｪ06ｨｬ060903, ESP6500 ｨｨ ExAC. 0805000608ｨｨｨｰｨｬ04 0708020109ｨｺｨ 04ｨ ｨｪｨｨ07 07ｨ ｨｰ060002ｨｪｨｪ0609ｨｰｨｨ 08ｨ 090202ｨｪｨｨ09ｨ 06ｨｰ 01ｨ ｨｪｨｪｨｮ06 04ｨ ｨｬ02ｨｪｨｮ ｨｺｨ ｨｺ 07ｨ ｨｰ060002ｨｪｨｪｨｮ06. 03ｨ 02ｨｨ02ｨｪｨｰ 2 06ｨ 090502010609ｨ ｨｪ 09 0801090107 000001010003, 000102 ｨｬ02ｨｰ060106ｨｬ 070807ｨｬ060006 0902ｨｺ0902ｨｪｨｨ080609ｨ ｨｪｨｨ07 0002ｨｪｨ SLC2A1 090407090502ｨｪｨ 08ｨ ｨｪ0202 ｨｪ02 0607ｨｨ09ｨ ｨｪｨｪ0602 ｨｨ04ｨｬ02ｨｪ02ｨｪｨｨ02 09.115-2A>G (IV S2-2A-G), 040204ｨｮ05ｨｹｨｰｨ ｨｰ04 ｨｺ05ｨｨｨｪｨｨ ﾂ0209ｨｺ060006 ｨｨ ｨｬ060502ｨｺｨｮ050708ｨｪ06-0002ｨｪ02ｨｰｨｨ ﾂ0209ｨｺ060006 ｨｰ0209ｨｰｨｨ080609ｨ ｨｪｨｨ07 07ｨ 02ｨｨ02ｨｪｨｰ0609 09 09ｨｨｨｪ010806ｨｬ06ｨｬ 010200ｨｨ02ｨｨｨｰｨ GLUT1 06ｨ ｨ 05ｨｨ02ｨ 2 0308ｨｨ04ｨｪｨ ｨｺ 01ｨ 05ｨｨ ﾂｨｨ02 0708ｨｨ04ｨｪｨ ｨｺ0609 ｨｮ 07ｨ 02ｨｨ02ｨｪｨｰ0609 03ｨ 02ｨｨ02ｨｪｨｰ 1 03ｨ 02ｨｨ02ｨｪｨｰ 2 03ｨ 02ｨｨ02ｨｪｨｰ 3 03ｨ 02ｨｨ02ｨｪｨｰ 4 030605 02020906 ﾂｨｺｨ 02020906 ﾂｨｺｨ 00ｨ 05ｨｹ ﾂｨｨｨｺ 00ｨ 05ｨｹ ﾂｨｨｨｺ 00060408ｨ 09ｨｰ ｨｪｨ ｨｬ06ｨｬ02ｨｪｨｰ 0609ｨｬ06ｨｰ08ｨ 6 0502ｨｰ 9 ｨｬ0209. 3 000601ｨ 3 ｨｬ0209. 9 0502ｨｰ 9 ｨｬ0209. 4 000601ｨ 01ｨ ﾂｨ 0506 09ｨｮ0106080600 6 ｨｬ0209. 1,5 ｨｬ0209. 1,5 000601ｨ 1 000601 2 ｨｬ0209. 06ｨｨ07 09ｨｮ0106080600 0002010502ｨｪｨｪ0402 ｨｺｨｨ09ｨｺｨｨ, 0708ｨｨｨｺ080409ｨ ｨｪｨｨ02 0902ｨｺ, ｨ ｨ 09ｨ ｨｪ0904 03ｨ 0806ｨｺ09ｨｨ04ｨｬｨ 05ｨｹｨｪ0402 0507ｨｨ04060104 09 09ｨｨ0102 070802080409ｨｨ09ｨｰ060006 010401ｨ ｨｪｨｨ07, 04ｨ ｨｬｨｨ08ｨ ｨｪｨｨｨｦ, 09ｨｰ02080206ｨｰｨｨ07ｨｪ0401 0908ｨ ｨｴｨ ｨｰ0205ｨｹｨｪ0401 0109ｨｨ0302ｨｪｨｨｨｦ 0005ｨ 04ｨｪ0401 07ｨ 0506ｨｺ, ｨｬｨｨ06ｨｺ0506ｨｪｨｮ09 0607ｨｨ04060104 07ｨ 0102ｨｪｨｨｨｦ, 09040108ｨ 00ｨｨ09ｨ ｨｪｨｨ02, ｨｺｨｨ09ｨｺｨｨ 000605060906ｨｦ 0606ｨｪｨｨｨｺ06-ｨｺ0506ｨｪｨｨ ﾂ0209ｨｺｨｨ02 0708ｨｨ09ｨｰｨｮ0704 0309ｨｨ0106ｨｬ06ｨｰ0608ｨｪｨ 07 04ｨ 01020803ｨｺｨ + + + + 01ｨ 08ｨｮ0302ｨｪｨｨ02 0802 ﾂｨｨ ｪ + + + 00ｨｨｨｺ0806020200ｨ 05ｨｨ07 ｪ + ｪ ｪ 08ｨｰｨ ｨｺ09ｨｨ07 ｪ + ｪ ｪ 0507ｨ 09ｨｰｨｨ ﾂｨｪ0609ｨｰｨｹ ｪ + ｪ ｪ 0805ｨｹｨｰ0208ｨｪｨｨ08ｨｮ06ｨｴｨ 07 0002ｨｬｨｨ07050200ｨｨ07 ｪ + ｪ ｪ 0708060902ｨｪｨｹ 000506ｨｺ060404 09 050004 1,8 ｨｬｨｬ0605ｨｹ/05 01.01. 1,7 ｨｬｨｬ0605ｨｹ/05 2,0 ｨｬｨｬ0605ｨｹ/05 0205ｨｨｨｰ0205ｨｹｨｪ0609ｨｰｨｹ ｨｺ02ｨｰ060002ｨｪｨｪ06ｨｦ 01ｨｨ02ｨｰ04 3 000601ｨ 1 000601 3 000601ｨ 2,5 ｨｬ0209. 06000002ｨｺｨｰｨｨ09ｨｪ0609ｨｰｨｹ ｨｺ02ｨｰ060002ｨｪｨｪ06ｨｦ 01ｨｨ02ｨｰ04 00ｨｮｨｰｨ 02ｨｨ07 09 0002ｨｪ02 SLC2A1 08ｨ 0409ｨｨｨｰｨｨ07 09.1305-1306insTGAAGA (p.v435vf1) 08ｨ 0409ｨｨｨｰｨｨ07, 01ｨｨ09ｨｺ06060801ｨｨｨｪｨ 02ｨｨ07, 01ｨｨ04ｨ 08ｨｰ08ｨｨ07 c.115-2a>g (IV S2-2A-G) 08ｨ 0409ｨｨｨｰｨｨ07 c.101a>g (p.asn34ser) 08ｨ 0409ｨｨｨｰｨｨ07, 01ｨｨ04ｨ 08ｨｰ08ｨｨ07 c.400g>a (p.gly134ser) 30
130003020600060105080808 0103010306060808. ｪ 2016. ｪ 017 07ｨ ｨｰ060002ｨｪｨｪ0609ｨｰｨｹ ｨｺ06ｨｰ0608060006 09040906ｨｺ06 0902080607ｨｰｨｪｨ. 07 07ｨ 02ｨｨ02ｨｪｨｰｨ 3 09 0801090107 000001010003 ｨｬ02ｨｰ060106ｨｬ 070807ｨｬ060006 0902ｨｺ0902ｨｪｨｨ080609ｨ ｨｪｨｨ07 0002ｨｪｨ SLC2A1 0607080201020502ｨｪｨ 07ｨ ｨｰ060002ｨｪｨｪｨ 07 ｨｬｨｮｨｰｨ 02ｨｨ07 09.101A>G (p.asn34ser), 0607ｨｨ09ｨ ｨｪｨｪｨ 07 09 ｨ ｨ 0402 01ｨ ｨｪｨｪ0401 HGMD (CM052363). 0308ｨｨ 07080609020102ｨｪｨｨｨｨ 05ｨｺ0406ｨｬｨｪ060006 0902ｨｺ0902ｨｪｨｨ080609ｨ ｨｪｨｨ07 09 05ｨ ｨ 0608ｨ ｨｰ0608ｨｨｨｨ 01030102000302 ｨｮ 07ｨ 02ｨｨ02ｨｪｨｰｨ 4 06ｨ ｨｪｨ 08ｨｮ0302ｨｪｨ ｨｬｨｮｨｰｨ 02ｨｨ07 c.400g>a (p.gly134ser), ｨｺ06ｨｰ0608ｨ 07 ｨｪ02 04ｨ 080200ｨｨ09ｨｰ08ｨｨ080609ｨ ｨｪｨ 09 ｨｺ06ｨｪｨｰ080605ｨｹｨｪ0401 0904ｨ 0608ｨｺｨ 01 001000 0002ｨｪ06ｨｬ060903, ESP6500 ｨｨ ExAC. 0805000608ｨｨｨｰｨｬ04 0708020109ｨｺｨ 04ｨ ｨｪｨｨ07 07ｨ ｨｰ060002ｨｪｨｪ0609ｨｰｨｨ 08ｨ 090202ｨｪｨｨ09ｨ 06ｨｰ 01ｨ ｨｪｨｪｨｮ06 04ｨ ｨｬ02ｨｪｨｮ ｨｺｨ ｨｺ 0902080607ｨｰｨｪ06 07ｨ ｨｰ060002ｨｪｨｪｨｮ06. 05ｨ ｨｺ0506 ﾂ02ｨｪｨｨ02 05ｨｨｨｪ010806ｨｬ 010200ｨｨ02ｨｨｨｰｨ GLUT1, 09090704ｨ ｨｪｨｪ04ｨｦ 09 ｨｪｨ 08ｨｮ0302ｨｪｨｨ02ｨｬ ｨｰ08ｨ ｨｪ09070608ｨｰｨ 000506ｨｺ060404 09 0006050609ｨｪ06ｨｦ ｨｬ060400 09 080204ｨｮ05ｨｹｨｰｨ ｨｰ02 ｨｬｨｮｨｰｨ 02ｨｨｨｦ 09 0002ｨｪ02 SLC2A1, 0708ｨｨ090601ｨｨｨｰ ｨｺ ｨｪ02090806050600ｨｨ ﾂ0209ｨｺｨｨｨｬ 08ｨ 0909ｨｰ0806ｨｦ09ｨｰ09ｨ ｨｬ 09 ｨ 0605ｨｹ03ｨｨｨｬ 0002ｨｪ06ｨｰｨｨ07ｨｨ ﾂ0209ｨｺｨｨｨｬ 08ｨ 04ｨｪ0606ｨ 08ｨ 04ｨｨ02ｨｬ ｨｨ 09 ｨｪｨ 09ｨｰ0607ｨｴ0202 090802ｨｬ07 07060101ｨ 02ｨｰ0907 05000002ｨｺｨｰｨｨ09ｨｪ06ｨｦ ｨｰ0208ｨ 07ｨｨｨｨ. 0507ｨｨｨｪｨｪ06ｨｬ0604000609ｨ 07 07ｨｮｨｪｨｺ02ｨｨ07 01060503ｨｪｨ ｨ 04ｨｰｨｹ 0904070605ｨｪ02ｨｪｨ ｨｮ ｨｺｨ 0301060006 07ｨ 02ｨｨ02ｨｪｨｰｨ 09 07060106040802ｨｪｨｨ02ｨｬ ｨｪｨ 09ｨｨｨｪ010806ｨｬ 010200ｨｨ02ｨｨｨｰｨ GLUT1 09 ｨｨ04ｨｬ020802ｨｪｨｨ02ｨｬ ｨｮ080609ｨｪ07 000506ｨｺ060404. 05ｨｪｨｨ0302ｨｪｨｨ02 ｨｺ06ｨｪ0202ｨｪｨｰ08ｨ 02ｨｨｨｨ 000506ｨｺ060404 09 05ｨｨｨｺ09060802 ｨｬ02ｨｪｨｹ0302 2,0 ｨｬｨｬ0605ｨｹ/05 0709050702ｨｰ0907 0706ｨｺｨ 04ｨ ｨｪｨｨ02ｨｬ 010507 ｨｬ060502ｨｺｨｮ050708ｨｪ06-0002ｨｪ02ｨｰｨｨ ﾂ0209ｨｺ060006 ｨｨ09090502010609ｨ ｨｪｨｨ07 0002ｨｪｨ SLC2A1 ｨｨ 08ｨ ｨｪｨｪ020006 0909020102ｨｪｨｨ07 ｨｺ02ｨｰ060002ｨｪｨｪ06ｨｦ 01ｨｨ02ｨｰ04. 00 ｨｪｨ 09ｨｰ0607ｨｴ0202 090802ｨｬ07 ｨｺ02ｨｰ060002ｨｪｨｪｨ 07 01ｨｨ02ｨｰｨ 0709050702ｨｰ0907 090209ｨｹｨｬｨ 05000002ｨｺｨｰｨｨ09ｨｪ04ｨｬ ｨｬ02ｨｰ060106ｨｬ 07ｨ ｨｰ060002ｨｪ02ｨｰｨｨ ﾂ0209ｨｺ06ｨｦ ｨｰ0208ｨ 07ｨｨｨｨ, 0706040906050706ｨｴｨｨｨｬ ｨｮｨｬ02ｨｪｨｹ03ｨｨｨｰｨｹ ｨｺ05ｨｨｨｪｨｨ ﾂ0209ｨｺｨｨ02 07080607090502ｨｪｨｨ07: ｨｺｨｮ07ｨｨ080609ｨ ｨｰｨｹ 09ｨｮ0106080600ｨｨ, ｨｮ05ｨｮ ﾂ03ｨｨｨｰｨｹ 0802 ﾂｨｹ ｨｨ 0109ｨｨ0302ｨｪｨｨ07. 0802ｨｰ06ｨｪ06090402 ｨｰ0205ｨ 070806ｨｪｨｨｨｺｨ 06ｨｰ ﾂ02080204 0002ｨｬｨ ｨｰ0605ｨｪ020200ｨ 05ｨｨ ﾂ0209ｨｺｨｨｨｦ ｨ ｨ 08ｨｹ0208 07060908020109ｨｰ0906ｨｬ 0108ｨｮ00060006 ｨ 0205ｨｺｨ -ｨｰ08ｨ ｨｪ09070608ｨｰ0208ｨ ｨｨ, ｨｰｨ ｨｺｨｨｨｬ 06ｨ 08ｨ 0406ｨｬ, 06ｨ 02090702 ﾂｨｨ09ｨ 06ｨｰ ｨｬ060400 ｨｪ0206ｨ 010601ｨｨｨｬ04ｨｬ ｨｺ0605ｨｨ ﾂ0209ｨｰ0906ｨｬ 05ｨｪ020800ｨｨｨｨ 010507 ｨｬ02ｨｰｨ ｨ 0605ｨｨ04ｨｬｨ. 0802ｨｰ060002ｨｪｨｪｨ 07 01ｨｨ02ｨｰｨ, ｨｺｨ ｨｺ 0708ｨ 09ｨｨ0506, 010608060306 07020802ｨｪ0609ｨｨｨｰ0907 07ｨ 02ｨｨ02ｨｪｨｰｨ ｨｬｨｨ. 03080600ｨｪ0604 ｨ 05ｨ 00060708ｨｨ07ｨｰｨｪ04ｨｦ, 020905ｨｨ ｨｺ02ｨｰ060002ｨｪｨｪｨ 07 01ｨｨ02ｨｰｨ ｨｪｨ ﾂｨｨｨｪｨ 02ｨｰ0907 09 08ｨ ｨｪｨｪ02ｨｬ 0102ｨｰ09ｨｰ0902. 07 09090201 ｨｪｨ ｨ 050601ｨ 02ｨｬ0401 ｨｪｨ ｨｬｨｨ 07ｨ 02ｨｨ02ｨｪｨｰ0609 090407090502ｨｪ04 08ｨ 04ｨｪ0402 0706 ｨｰｨｨ07ｨｮ ｨｬｨｮｨｰｨ 02ｨｨｨｨ 09 0002ｨｪ02 SLC2A1. 00 09090704ｨｨ 09 ｨｬｨ 0504ｨｬ ﾂｨｨ090506ｨｬ ｨｪｨ ｨ 05060102ｨｪｨｨｨｦ ｨｪ02 0708020109ｨｰｨ 09050702ｨｰ0907 090604ｨｬ0603ｨｪ04ｨｬ 070806090209ｨｰｨｨ 0002ｨｪ06-0002ｨｪ06ｨｰｨｨ07ｨｨ ﾂ0209ｨｺｨｨ02 ｨｺ080802050702ｨｨｨｨ. 000902 07ｨ 02ｨｨ02ｨｪｨｰ04 070605ｨｮ ﾂｨ 06ｨｰ ｨｺ02ｨｰ060002ｨｪｨｪｨｮ06 01ｨｨ02ｨｰｨｮ ｨｪｨ 0006ｨｪ02 ｨｺ06ｨｰ060806ｨｦ 06ｨｰｨｬ02 ﾂ02ｨｪ 0706050603ｨｨｨｰ0205ｨｹｨｪ04ｨｦ 05000002ｨｺｨｰ 09 0502 ﾂ02ｨｪｨｨｨｨ 0507ｨｨ05020709ｨｨｨｨ, 0601ｨｪｨ ｨｺ06 0709ｨｨ0106ｨｪ02090806050600ｨｨ ﾂ0209ｨｺｨｨｨｦ 010200ｨｨ02ｨｨｨｰ 09 09ｨｨ0102 01ｨｨ09ｨｺ06060801ｨｨｨｪｨ 02ｨｨｨｨ ｨｨ 01ｨｨ04ｨ 08ｨｰ08ｨｨｨｨ 09060108ｨ ｨｪ0702ｨｰ0907. 000201ｨｨｨｺ06-0002ｨｪ02ｨｰｨｨ ﾂ0209ｨｺ0602 ｨｺ06ｨｪ09ｨｮ05ｨｹｨｰｨｨ080609ｨ ｨｪｨｨ02 0902ｨｬｨｹｨｨ, 09 ｨｺ06ｨｰ060806ｨｦ 0802ｨ 02ｨｪ06ｨｺ ｨｨｨｬ0202ｨｰ 070601ｨｰ090208030102ｨｪｨｪ04ｨｦ 09ｨｨｨｪ010806ｨｬ GLUT1 09ｨ 03ｨｪ06 0708ｨｨ 0705ｨ ｨｪｨｨ080609ｨ ｨｪｨｨｨｨ 09050201ｨｮ06ｨｴ02ｨｦ ｨ 020802ｨｬ02ｨｪｨｪ0609ｨｰｨｨ. 06ｨｨ07 ｨｪｨ 090502010609ｨ ｨｪｨｨ07 ｨ ｨｮｨｰ060906ｨｬｨｪ06-0106ｨｬｨｨｨｪｨ ｨｪｨｰｨｪ04ｨｦ, 08ｨｨ09ｨｺ 0702080201ｨ ﾂｨｨ 07ｨ ｨｰ060002ｨｪｨｪ06ｨｦ ｨｬｨｮｨｰｨ 02ｨｨｨｨ 06ｨｰ 080601ｨｨｨｰ020502ｨｦ ｨｺ 0802ｨ 02ｨｪｨｺｨｮ 090609ｨｰｨ 09050702ｨｰ 50%. 0308ｨｨ 090407090502ｨｪｨｨｨｨ ｨｬｨｮｨｰｨ 02ｨｨｨｨ 09 0002ｨｪ02 SLC2A1 ｨｮ 070806ｨ ｨ ｨｪ01ｨ 0802ｨｺ06ｨｬ02ｨｪ01ｨｮ02ｨｰ0907 07080609020102ｨｪｨｨ02 ｨｬ060502ｨｺｨｮ050708ｨｪ06-0002ｨｪ02ｨｰｨｨ ﾂ0209ｨｺ060006 ｨｰ0209ｨｰｨｨ080609ｨ ｨｪｨｨ07 020006 080601ｨｨｨｰ020502ｨｦ, 070609ｨｺ0605ｨｹｨｺｨｮ 080601ｨｨｨｰ0205ｨｨ ｨｬ0600ｨｮｨｰ ｨｨｨｬ02ｨｰｨｹ 09ｨｮｨ ｨｺ05ｨｨｨｪｨｨ ﾂ0209ｨｺｨｮ06 000608ｨｬｨｮ 04ｨ ｨ 06050209ｨ ｨｪｨｨ07. 0507ｨｨ0906ｨｺ 05ｨｨｨｰ0208ｨ ｨｰｨｮ0804 1. 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13000102000403 06030901020902010606 0206080101020506060806 0108050903020506000301010409 090209030501030703 GLUT1 deficiency syndrome (De Vivo disease): clinical and genetics aspects Kozhanova T.V. 1,2, Zhilina S.S. 1,2, Mescheryakova T.I. 1, Aivazyan S.O. 1, Osipova K.V. 1, Suchko L.M. 1, Luk`yanova E.G. 1, Prityko A.G. 1,2 1 ｪ Scientific and Practical Center of children medical care, Moscow, Russia 2 ｪ Pirogov Russian National Research Medical University, Moscow, Russia This article describes 4 clinical cases of glucose transporter type 1 deficiency syndrome (GLUT1, De Vivo disease) in children admitted to the neuropsychiatric department of Scientific and Practical Center of children medical care. The drug-resistant epilepsy, movement disorders, psychomotor and intellectual disabilities, decrease of glucose levels in the cerebrospinal fluid (CSF) were diagnosed in children. The different types of mutations in the SLC2A1 gene, responded for the development of GLUT1 deficiency syndrome were detected by targeted sequencing in all patients. De Vivo disease is characterized by the infantile-onset encephalopathy, symptomatic drug-resistant epilepsy, microcephaly, delayed psychomotor development with spasticity, ataxia, dysarthria and alternating hemiplegia and decrease the level of glucose in the CSF. Currently, the ketogenic diet is highly effective method of pathogenesis therapy, which can reduce the clinical manifestations: controlling the seizures, improving the movement disorder and speech. Keywords. GLUT1 deficiency syndrome, epilepsy, alternating hemiplegia, dysarthria, microcephaly, targeted sequencing 32