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1719, 1862, 2138, 2172, 2333, 2391, 2460, 2482, 2541, 4180], 'associated': [1519, 3122, 3151, 3307, 3400, 3432, 3801], 'heterogenous': [1521], 'syndromes:': [1522], 'familial': [1523, 1790], 'dyskinesia': [1524, 1740, 1791, 2657, 2821, 3015, 3089, 3236, 3253, 3302, 3329, 3563, 3749, 4097], 'facial': [1526, 1793, 1808, 2823, 3023, 3806], 'myokymia;': [1527, 2824], 'paroxysmal': [1528, 1869, 1907, 2814, 2889], 'chorea': [1529, 1533, 1870, 1903, 2021, 2830, 2841], 'dystonia;': [1531, 1535, 2810, 2832], 'autosomal-dominant': [1532, 1880, 2016], 'benign': [1537, 2839], 'hereditary': [1538, 2840], 'chorea.': [1539], 'We': [1540, 1710, 1726, 2525], 'provide': [1541, 1966], 'detailed': [1542, 1967, 2049, 3930], 'clinical': [1543, 1714, 1786, 1952, 2050, 2055, 2142, 2338, 2467, 2523, 4196], 'on': [1545, 1765, 1922, 1950, 2140, 2442, 3179, 3750, 3942], 'patients': [1547, 1596, 1612, 1631, 1669, 1677, 1924, 1971, 1977, 2108, 2305, 2471, 2500, 2515, 2849, 2991, 3864, 3882, 4176], 'six': [1549], 'new': [1550, 4202], 'kindreds': [1551, 1878, 2111, 2479, 3959, 4130, 4172], 'ADCY5': [1556, 1568, 1586, 1618, 1717, 1861, 1986, 2030, 2137, 2199, 2255, 2292, 2299, 2332, 2352, 2430, 2481, 2540, 3967, 4149, 4162, 4178, 4243], 'gene,': [1557], 'order': [1559], 'expand': [1561, 4229], 'define': [1563], 'phenotypic': [1565, 1724, 4235], 'spectrum': [1566, 2056, 4236], 'mutations.': [1569, 2031], 'Methods': [1570, 2063], 'In': [1571, 1774, 1810, 1910, 2215, 2281, 2407, 3025, 3296, 3356, 3369, 3530, 3721, 4064, 4189], 'patients,': [1576, 3029], 'followed': [1577, 2121, 3169], 'over': [1578, 2125], 'period': [1580, 2127], '9': [1582, 2129], '32': [1584, 2131], 'years,': [1585], 'sequenced': [1588], 'sequencing.': [1591, 1609], 'The': [1592, 1664, 1756, 1833, 2087, 2456, 2466, 2844, 2857, 2902, 2925, 3011, 3049, 3972, 4152], 'other': [1593, 2040, 2990, 3118, 3664, 3986, 4093, 4153], '2': [1594, 1864, 1876, 2303, 2575, 3074, 3186, 3226, 3297, 3354, 3467, 3489, 3649, 3693, 3724, 3795, 4154], 'unrelated': [1595, 2224, 2304, 4208], 'participated': [1597, 2315], 'studies': [1599], 'undiagnosed': [1601, 2322], 'pediatric': [1602, 2323], 'hyperkinetic': [1603], 'movement': [1604, 2324, 2890, 2968, 3932], 'disorders': [1605], 'underwent': [1607], 'whole-exome': [1608, 1812, 2318], 'Results': [1610, 2455], 'Five': [1611, 3784], 'had': [1613, 1670, 1678, 1688, 1957, 2010, 2516, 2982, 2996, 3022, 3097, 3132, 3325, 3601, 3630, 3695, 3744, 3769, 3786, 3828, 3855, 3868, 3889, 3905, 3913, 3921, 3938, 4022, 4147, 4161], 'previously': [1615, 2011, 2477, 3238, 3965], 'reported': [1616, 1779, 1898, 1921, 2043, 2173, 2478, 2542, 3086, 3120, 3233, 3244, 3258, 3966, 4183], 'p.R418W': [1617, 2228, 4150], 'mutation;': [1619], 'we': [1620, 1920, 1928, 1954, 1965, 2047, 2217, 2392, 2409, 4193, 4228], 'also': [1621, 2328, 2981, 2995, 3159, 3895], 'identified': [1622, 2329, 2390], 'two': [1623, 4225], 'novel': [1624, 1785, 1858, 2029, 4023, 4037, 4195, 4226], 'p.R418G': [1627, 1665, 4163], 'p.R418Q.': [1629], 'All': [1630, 1940, 2068, 3663, 3919], 'presented': [1632, 1799, 4157], 'motor': [1634, 3309, 3336, 3442, 3632, 3852, 4144], 'milestone': [1635, 3443], 'delay,': [1636, 4146], 'infantile-onset': [1637, 2020], 'action-induced': [1638, 3364, 3535, 3687], 'generalized': [1639], 'choreoathetosis,': [1640], 'dystonia,': [1641], 'or': [1642, 1684, 1802, 2251, 2853, 2923, 3008, 3035, 3219, 3276, 3338, 3621, 3699], 'myoclonus,': [1643], 'episodic': [1645, 2709, 2861, 2898, 3252, 3301, 3562, 3688, 3739], 'exacerbations': [1646, 1934, 3087], 'during': [1647, 1935, 2806, 2957, 3102, 3184, 3330, 3397, 3471, 3506, 3596], 'drowsiness': [1648, 3103], 'being': [1649, 2909], 'characteristic': [1651, 3079], 'feature.': [1652], 'Axial': [1653, 2662, 3419], 'hypotonia,': [1654, 3646, 4142], 'impaired': [1655], 'upward': [1656, 2689], 'saccades,': [1657], 'intellectual': [1659, 3829], 'disability': [1660, 2684], 'were': [1661, 1941, 2133, 2327, 2354, 2432, 2859, 2904, 2917, 2932, 2949, 3278, 3557, 3876, 3886, 3998, 4039, 4067, 4098], 'variable': [1662, 2518], 'features.': [1663, 2143, 2524], 'p.R418Q': [1667, 4165], 'mutation': [1668, 1825, 2431, 2624, 3973], 'milder': [1672, 3319, 3653, 3862, 4159], 'phenotype.': [1673, 3437], 'Six': [1674, 3626], 'seven': [1676, 3095, 3628, 3937], 'mild': [1679, 1706, 1728, 3160], 'functional': [1680, 1707, 3428, 3528, 4079], 'gain': [1681], 'clonazepam': [1683, 3216, 3483, 3754], 'clobazam.': [1685], 'One': [1686, 3599, 3741, 3924], 'patient': [1687, 1894, 2119, 2978, 4101], 'bilateral': [1689, 1736], 'globus': [1690], 'pallidal': [1691, 1737, 3282, 3516], 'DBS': [1692, 3283], 'age': [1695, 3137, 3373, 3638, 3660, 3673, 3794], '33': [1697], 'marked': [1699], 'reduction': [1700], 'dyskinesia,': [1702, 3807], 'which': [1703, 3588, 3808], 'resulted': [1704, 3290], 'improvement.': [1708], 'Conclusion': [1709], 'further': [1711, 2003, 2302], 'delineate': [1712, 4233], 'features': [1715, 2538], 'gene': [1718, 1987, 2200, 4179], 'illustrate': [1721], 'its': [1722, 1745, 1841, 2364, 2438], 'wide': [1723], 'expression.': [1725], 'describe': [1727, 2048], 'improvement': [1729, 3234, 3292, 3496, 3526], 'after': [1730, 3112, 3128, 3515, 3780], 'treatment': [1731], 'clonazepam,': [1733], 'clobazam,': [1734], 'DBS.': [1738], 'under-recognized,': [1743], 'diagnosis': [1746], 'has': [1747], 'important': [1748], 'prognostic,': [1749], 'genetic,': [1750], 'therapeutic': [1752], 'implications.': [1753], '©': [1754], 'Authors.': [1757], 'published': [1760, 2435], 'Periodicals,': [1763], 'Inc.': [1764], 'behalf': [1766], 'International': [1768, 1915], 'Parkinson': [1769], 'Disorder': [1772], 'Society': [1773], '2001,': [1775], 'Fernandez': [1776], 'colleagues': [1778], 'single': [1781, 3791], 'kindred': [1782, 1820, 2042, 2457], 'syndrome': [1787, 1901, 1927], 'described': [1788, 1929], 'as': [1789, 1930, 1989, 1991, 2015, 2078, 2080, 2154, 2156, 2330, 2361, 2363, 2472, 2474, 2920, 2973, 3000, 3552], 'myokymia': [1794], '(FDFM;': [1795], 'OMIM#606703).1': [1796], 'Affected': [1797], 'childhood-': [1801], 'adolescent-onset': [1803], 'distal': [1804], 'choreiform': [1805, 2815, 2946, 2985], 'movements': [1806, 2858, 3042, 3164, 3177, 3189, 3201, 3551, 3885], 'myokymia.': [1809], '2012,': [1811], 'sequencing': [1813, 2164, 2319, 2372], '1': [1815, 1892, 2117, 2487, 3256, 3894, 3911], 'member': [1816], 'original': [1819], 'revealed': [1821, 3363, 3380, 3834, 4014], 'c.2176G>A': [1823, 2640], '(p.A726T)': [1824], 'adenylyl': [1828], 'gene.': [1832, 2256], 'pathogenicity': [1834], 'change': [1837, 2234], 'absence': [1842, 2297, 2365], 'control': [1844], 'cases': [1845, 1866, 2326, 2357, 4203], 'transmission': [1847], 'affected': [1849, 3320, 3863, 3996], 'family': [1850, 3987], 'shown': [1852, 1981], 'cosegregation': [1854], 'analysis.2': [1855], 'Subsequently,': [1856], 'c.1252C>T': [1859, 2625, 3968], '(p.R418W)': [1860, 3969], 'sporadic': [1865, 1893, 1994, 2118, 4175, 4212], 'childhood-onset': [1868, 2855, 4096], 'dystonia': [1872, 1905, 2023, 3519], 'identified.3': [1874], 'Recently,': [1875], 'additional': [1877, 1993], 'mode': [1881], 'inheritance': [1883], '(p.R418W': [1884], 'c.2088+1G>A': [1886, 2645], 'leading': [1887, 2892, 3493, 3523, 3545], 'haploinsufficiency)4,': [1889], '(p.R418W)4': [1895], 'been': [1897, 1980, 2012, 4182], 'without': [1906, 2022, 3335], 'episodes.4,': [1908], '2011,': [1911], '5th': [1914], 'Dystonia': [1916, 2668, 3418], 'Symposium': [1917], '4': [1923, 1976, 3019, 3224, 3812, 4129], '“familial': [1931], 'choreoathetosis': [1932, 2803, 2927, 3365, 3510], 'drowsiness”6': [1936], '(Supporting': [1937, 2340, 3210, 3366, 3415, 4061, 4088, 4103], 'Fig.': [1938, 3211, 3367, 3416, 4062], '1).': [1939, 3481], 'initially': [1942, 2860], 'diagnosed': [1943, 2013], 'dyskinetic': [1945], 'cerebral': [1946], 'palsy,': [1947], 'but': [1948, 2007, 2520, 3040, 3587], 'based': [1949, 2139], 'their': [1951, 2028, 2141, 2310, 2367, 2997, 3006, 3543, 3561, 3716, 4078], 'features,': [1953], 'suspected': [1955, 2134], 'they': [1956, 2880, 4053, 4066], 'unique,': [1959], 'probably': [1960], 'genetically': [1961, 2283], 'determined,': [1962], 'syndrome.': [1963], 'Here,': [1964], 'descriptions': [1968], 'those': [1970], 'report': [1973, 4194], 'that': [1974, 2916, 3057, 3081, 3090, 3104, 3237, 3332, 4127], 'all': [1975, 2863, 2907, 3082, 4128], 'now': [1979], 'harbor': [1983], 'identical': [1985, 1998], 'mutation,': [1988, 2293], 'well': [1990, 2079, 2155, 2362, 2473], 'case': [1995, 2427], 'phenotype': [1999, 3654, 3853, 4160], 'mutation.': [2001, 2300, 4151], 'Two': [2002, 3315, 3826], 'probands': [2004, 2266, 3957, 4008, 4155], 'milder,': [2006], 'overlapping,': [2008], 'phenotypes': [2009], 'syndromically': [2014], 'myoclonus-dystonia': [2017], 'sporadic,': [2019], 'before': [2024], 'discovery': [2026], 'From': [2032], 'these': [2033, 3814], '6': [2041, 2476, 2566, 3424, 3491, 3531, 3881, 4171], 'literature,': [2046], 'findings': [2051, 4199, 4215], 'highlight': [2053], 'ADCY5-related': [2058, 4238], 'neurological': [2059], 'disorders.': [2060], 'Patients': [2061, 2064], 'Genetic': [2066, 2342, 3952], 'Analysis': [2067], 'participants': [2070], 'gave': [2071], 'written': [2072], 'informed': [2073], 'consent': [2074], 'genetic': [2076, 2530, 4001, 4198], 'testing': [2077, 3833], 'disclosure': [2082], 'results': [2084], 'videos.': [2086], 'approved': [2090], 'local': [2093], 'ethics': [2094], 'committee': [2095], 'carried': [2098, 2202, 3963], 'out': [2099, 2203], 'accord': [2101], 'Declaration': [2104], 'Helsinki.': [2106], 'Four': [2107, 3093, 3888], '3': [2110, 2223, 3026, 3565, 3817, 4211], '(K1,': [2112], 'K2,': [2113, 4011], 'K5)': [2115], '(K3-1)': [2120], 'one': [2123], 'institution': [2124], 'years': [2132, 2576, 2582, 3640, 3675], 'harboring': [2136], 'Thus,': [2144], 'subjects': [2146, 2865, 3085, 3096, 3119, 3243, 3321, 3470, 3629, 3650, 3665, 3694, 3725, 3785, 3818, 3827, 3848, 3920], 'K1-1,': [2147, 2230], 'K2-1,': [2148, 2231], 'K3-1,': [2149, 2162, 3358], 'K5-1': [2151, 2979, 3768, 4019], '(Fig.': [2152], '1),': [2153], 'clinically': [2158, 2311, 3995], 'unaffected': [2159, 2275, 2312], 'parents': [2160, 2368, 3978], 'exons': [2166], '2,': [2167, 3067, 3479, 3501], '8,': [2168], '10': [2170, 2605, 2606, 2615, 2616, 2647, 2648, 2686, 2687, 2723, 2728, 2761, 2776, 2786], '(harboring': [2171], 'literature)': [2176], 'corresponding': [2178], 'exon-intron': [2179], 'junctions': [2180], '(a': [2181], 'minimum': [2182], '50': [2184, 2627, 2628, 2666, 2735, 2739], 'base': [2185], 'pairs': [2186], 'intronic': [2188], 'DNA': [2189], 'flanking': [2190], 'each': [2191, 2268], 'three': [2194, 4073, 4207], 'analyzed': [2195, 2284], 'exons)': [2196], 'using': [2204, 2377, 2444, 3715], 'ABI': [2206], '3500XL': [2207], 'automated': [2208], 'sequencer': [2209], '(Applied': [2210], 'Biosystems,': [2211], 'Foster': [2212], 'City,': [2213], 'CA).': [2214], 'addition,': [2216, 2408, 4065], 'performed': [2218, 3285, 4005], 'haplotype': [2219], 'analysis': [2220, 2339, 2343, 4004], 'carriers': [2225], '(cases': [2229], 'K3-1)': [2233], 'genotyping': [2236], 'five': [2237, 3847], 'short': [2238, 3602], 'tandem': [2239], 'repeat': [2240], 'markers': [2241], 'situated': [2242], 'close': [2244], 'proximity': [2245], '(D3S3674,': [2246], 'D2S3636,': [2247], 'D3S1269,': [2248], 'D3S3573)': [2250], 'within': [2252], '(D3S1267)': [2253], 'Figure': [2257, 2464], '1Open': [2258], 'figure': [2260], 'viewerPowerPoint': [2261], 'Kindred': [2262], 'pedigrees.': [2263], 'Arrowheads': [2264], 'indicate': [2265], 'pedigree;': [2269], 'black': [2270], 'symbols,': [2271, 2274, 2278], 'affected;': [2272], 'white': [2273], 'members;': [2276], 'slashed': [2277], 'deceased': [2279], 'individuals.': [2280], 'individuals,': [2285], '+': [2286], 'denotes': [2287, 2295], 'presence': [2289, 3154, 3804], '–': [2294], '(K4-1': [2306], 'K6-1': [2308, 2360, 4021, 4102], 'parents)': [2313, 3997], 'who': [2314, 4156], 'disorder': [2325, 2969], 'having': [2331], 'included': [2335], 'Methods).': [2341], 'targeted': [2345], 'genes': [2347, 4094], 'causing': [2348, 4095], 'childhood': [2349, 2812, 3331, 3472], 'dyskinesia.': [2350, 2856, 3024, 3689, 3740], 'Identified': [2351], 'variants': [2353, 4038], 'confirmed': [2355], 'K4-1': [2358, 3904], 'direct': [2370], 'relevant': [2375], 'exon': [2376], 'standard': [2378], 'techniques.': [2379], 'For': [2380], 'silico': [2383], 'prediction': [2384, 4075], 'pathogenicity/functional': [2386], 'importance': [2387, 4080], 'used:': [2393], '(1)': [2394], 'MutationTaster7;': [2395], '(2)': [2396], 'PolyPhen28;': [2397], '(3)': [2398], 'SIFT9;': [2399], '(4)': [2401], 'combined': [2402], 'annotation-dependent': [2403], 'depletion': [2404], '(CADD)10': [2405], 'tools.': [2406], 'assessed': [2410], 'frequency': [2412], 'detected': [2415], 'changes': [2416, 4026], 'Exome': [2419], 'Aggregation': [2420], 'Consortium': [2421], '(ExAC)': [2422], 'Browser.11': [2423], 'Literature': [2424], 'Review': [2425], 'Previous': [2426], 'reports': [2428], 'collected': [2433], 'articles': [2436], 'reference': [2439], 'list,': [2440], 'Pubmed': [2443], 'following': [2446], 'keywords:': [2447], '“adenylyl': [2448], '5”': [2450], '“adenylate': [2452], '5.”': [2454], 'pedigrees': [2458], 'are': [2461, 2483, 2501, 3051, 4120, 4216], 'displayed': [2462], '1.': [2465, 2491, 2536], 'summarized': [2484], 'Table': [2486, 2490, 2512, 2535, 4089, 4104], 'Supporting': [2489, 2505, 2511], 'Detailed': [2492], 'history,': [2493], 'examination': [2494, 2509, 3943], 'findings,': [2495, 2531], 'investigations': [2497], 'available': [2502, 3352, 3999], 'Materials': [2506], '(History': [2507], '2).': [2513, 4063, 4105], 'Our': [2514, 2561, 4214], 'phenotype,': [2519, 4136], 'overlapping': [2522], 'will': [2526], 'summarize': [2527], 'phenomenology,': [2529], 'genotype-phenotype': [2533], 'correlations.': [2534], 'date': [2544], 'Frequency': [2545], 'Range': [2546], 'Features': [2548], 'No.': [2549], 'Cases': [2551, 4018], '(Where': [2552, 2559], 'Reported)': [2553, 2560], '%': [2554, 2558], '(n': [2555], '=': [2556], '20)': [2557], 'Series': [2562], 'Presentation': [2563], 'Birth': [2564], 'months': [2567, 2573], '4/19': [2568], '20': [2569, 2756, 2782], '21': [2570], '3/7': [2571, 2580, 2682], '7/19': [2577], '35': [2578, 2693, 2749], '37': [2579], '>2': [2581], '8/19': [2583], '40': [2584, 2665, 2715, 2734], '42': [2585], '1/7': [2586, 2597, 2602, 2634, 2639, 2729, 2768, 2793], 'Syndrome': [2587], 'CWEDD': [2588], '5/20': [2589], '25': [2590, 2591], '5/7': [2592, 2629, 2661], '1/20': [2594, 2599, 2631, 2636], 'IOIC': [2598], 'COPCD': [2603], '2/20': [2604, 2614, 2646, 2685], '0/7': [2607, 2612, 2617, 2622, 2644, 2649, 2706, 2724, 2746, 2783, 2798], 'FDFM': [2608], '6/20': [2609, 2641, 2679, 2698], '30': [2610, 2611, 2642, 2643, 2680, 2681, 2699, 2700, 3194], 'EOADCD': [2613], 'BHC': [2618], '3/20': [2619], '15': [2620, 2621, 2675, 2744, 2781, 4174], 'Gene': [2623], '10/20': [2626], 'c.1252C>G': [2630], 'c.1253G>A': [2635], 'Phenomenology': [2650, 2842], 'Chorea': [2651], '18/19': [2652], '90': [2653], '95': [2654], '6/7': [2655, 2667, 2672, 2717, 2736, 2751], 'Facial': [2656], '11/20': [2658], '55': [2659, 2660], 'hypotonia': [2663, 3420, 3440, 3487, 3685, 3736, 3747], '8/16': [2664, 2733], '14/17': [2669], '70': [2670], '82': [2671], 'Myoclonus': [2673], '3/11': [2674], '27': [2676, 2757], '2/7': [2677, 2688, 2701, 2763], 'Spasticity': [2678, 3934], 'Intellectual': [2683], 'gaze': [2690], 'palsy': [2691], '7/13': [2692], '54': [2694], '4/7': [2695, 2741, 2758], 'Motor': [2696], 'regression': [2697, 3310, 3337], 'Epilepsy': [2702], '1/19': [2703], 'Duration': [2707], 'exacerbation': [2710, 2805], 'Minutes': [2711], 'hours': [2713, 2870, 3111], '8/10': [2714], '80': [2716], 'Hours': [2718], 'days': [2720], '1/10': [2721, 2726], 'Constant': [2725], 'Exacerbating': [2730], 'factors': [2731, 2875], 'Action': [2732, 2794], 'Stress': [2737], '10/16': [2738], '63': [2740], 'Awakening': [2742], '3/16': [2743], '19': [2745], 'Drowsiness': [2747], '7/16': [2748], '44': [2750], 'Improvement': [2752], 'Clonazepam': [2754], '4/15': [2755], 'Clobazem': [2759], '2/15': [2760, 2775, 2785], '13': [2762, 2777, 2787], 'Carbamazepine': [2764], '1/15': [2765, 2770, 2790, 2795], 'Propranolol': [2769], 'NT': [2773, 2778, 2788], 'Acetazolamide': [2774], 'Trihexyphenidyl': [2779], '3/15': [2780], 'Tetrabenazine': [2784], 'Caffeine': [2789], 'NT,': [2799], 'not': [2800, 3521, 3928, 4040, 4121], 'tried;': [2801], 'CWEDD,': [2802], 'drowsiness;': [2807], 'myoclonus': [2809, 2975, 3001, 3412], 'COPCD,': [2811], 'onset': [2813, 2827, 2835], 'dystonic': [2817, 3536, 3555, 3568, 3603, 3616, 3775], 'movements;': [2818], 'FDFM,': [2819], 'Familial': [2820], 'EOADCD,': [2825], 'early': [2826, 2854, 3126, 3305, 3722], 'autosomal': [2828], 'dominant': [2829, 2845], 'IOIC,': [2833], 'infantile': [2834], 'isolated': [2836], 'chorea;': [2837], 'BHC,': [2838], 'Dyskinesias': [2843], 'feature': [2846, 3448], 'infantile-': [2852], 'occurring': [2866], 'seconds': [2868, 3581], 'duration.': [2872], 'Although': [2873, 2971], 'exacerbating': [2874], 'could': [2876, 3043, 3589, 3655], 'often': [2877], 'identified,': [2879], 'lacked': [2881], 'stereotyped': [2883], 'trigger': [2884], 'duration': [2886, 3615], 'many': [2888], 'disorders,': [2891], 'us': [2893], 'prefer': [2895], 'term': [2897], 'rather': [2899], 'than': [2900], 'paroxysmal.': [2901], 'dyskinesias': [2903, 2998, 3031, 3050, 3101, 3121], 'similar': [2905], 'subjects,': [2908, 3231, 3300, 3425, 3492, 3534], 'characterized': [2910], 'brief': [2912], 'jerks': [2913], 'twitches': [2915], 'commonly': [2918], 'classified': [2919, 2972], 'chorea,': [2921, 3544], 'ballism,': [2922], 'choreoathetosis.': [2924, 3295, 3553], 'label': [2926], 'used': [2929], 'when': [2930], 'there': [2931], 'slower': [2933], 'writhing': [2934, 3109], 'movements,12': [2935], 'usually': [2936], 'upper': [2939, 3167, 3359, 3378, 3576], 'limbs,': [2940], 'addition': [2942, 3541, 4222], 'superimposed': [2945], 'movements.': [2947, 3918], 'They': [2948], 'worse': [2950], 'mental': [2952], 'activity,': [2953], 'anxiety,': [2954], 'prominent': [2956, 3422], 'action.': [2958], 'Often,': [2959], 'classification': [2960], 'phenomenology': [2963], 'uncertain,': [2965], 'even': [2966], 'specialists.': [2970], 'predominantly': [2974], 'only': [2976, 3648], '(who': [2980], 'some': [2983, 3003], 'slower,': [2984], 'movements),': [2986], 'most': [2987, 3242], 'series': [2994], 'labeled': [2999], 'clinicians,': [3004], 'emphasizing': [3005], 'twitchy': [3007], 'jerky': [3009], 'character.': [3010], 'distribution': [3012], 'generalized,': [3017], 'became': [3032], 'continuous': [3034], 'constant': [3036], 'increasing': [3038], 'age,': [3039], 'involuntary': [3041, 3163], 'still': [3044], 'absent': [3046, 3890, 3975], 'rest.': [3048], 'illustrated': [3052], 'video': [3055], 'files': [3056], 'accompany': [3058], '(see': [3061, 3342, 3473, 3499, 3582], 'Video': [3062, 3066, 3071, 3343, 3474, 3478, 3500, 3583], '1,': [3063, 3475], 'Segment': [3064, 3068, 3345, 3476, 3480, 3502, 3585], '1;': [3065], '2;': [3069], '3,': [3072, 3344, 3584], 'Segments': [3073], '3).': [3076, 3212, 4090], 'notable': [3078, 4126], 'interrupted': [3091], 'sleep.': [3092, 3129, 3187, 3240], 'history': [3099], 'prevented': [3105], 'sleep': [3106, 3134, 3143, 3149, 3180], 'initiation,': [3107], 'sometimes': [3108], 'retiring': [3113], 'bed,': [3115], 'whereas': [3116, 3902], 'awakening': [3124], 'morning': [3127], 'Subject': [3130, 3767], 'K3-1': [3131, 3980], '26': [3138], 'it': [3140, 4124], 'showed': [3141], 'poor': [3142], 'efficiency': [3144], '(32%)': [3145], 'because': [3146], 'long': [3148, 3197], 'latency': [3150], 'dyskinesias.': [3156], 'There': [3157], 'hypopnea': [3161], 'preceding': [3162], 'limb': [3168, 3200, 3360, 3577, 3940], 'trunk,': [3171], 'then': [3172, 3706], 'hip': [3173], 'knee': [3175], 'flexion': [3176], 'mostly': [3178], 'arousal': [3181], 'once': [3183], 'stage': [3185], 'These': [3188, 3567], 'lasted': [3190], 'up': [3192], 'seconds,': [3195], 'too': [3196], 'periodic': [3199], 'no': [3204, 3245, 4015], 'evidence': [3205], 'epileptiform': [3207], 'EEG': [3208], 'activity': [3209, 3388], 'After': [3213], 'commencement': [3214], '(0.01-0.20': [3217], 'mg/kg)': [3218], 'clobazam': [3220], '(0.2': [3222], 'mg/kg),': [3223], 'respectively,': [3232], 'disrupted': [3239], 'Whereas': [3241], 'benefit': [3246, 3259], 'carbamazepine': [3248], 'worsening': [3250], 'caffeine,': [3255], 'subject': [3257, 3287, 3357, 3370, 3513, 3600, 3612, 3742, 3903, 3912, 3925], 'caffeine': [3261], 'another': [3263, 3611], 'carbamazepine.': [3265], 'Treatment': [3266], 'levodopa,': [3268], 'sodium': [3269], 'valproate,': [3270], 'tetrabenazine,': [3271], 'trihexyphenidyl,': [3272], 'pregabalin,': [3273], 'gabapentin,': [3274], 'phenobarbitone,': [3275], 'baclofen': [3277], 'inevitably': [3279], 'ineffective.': [3280], 'Bilateral': [3281], 'K2-1': [3288, 3514], 'her': [3294], 'worsened': [3303], 'adulthood': [3306], 'loss': [3312, 3339], 'ambulation.': [3314], 'relative': [3318], '(K5-1': [3322, 3865], 'K6-1)': [3324, 3867], 'increase': [3327], 'caused': [3333, 3426], 'falls': [3334, 3770], 'ambulation': [3341, 3464, 3498], '4).': [3346, 3368], 'Surface': [3347], 'electromyography': [3348], '(sEMG)': [3349], 'subjects.': [3355, 3455, 3566], 'sEMG': [3361, 3375], 'K5-1,': [3371], '16,': [3374], 'limbs': [3379], 'frequent': [3381], '100-': [3382], '250-ms': [3384], 'bursts': [3385, 3391], 'muscle': [3387, 3405], 'sustained': [3390], 'between': [3392, 3637, 3672, 3793], '500': [3393], '2,500': [3395], 'ms': [3396], 'nose-targeted': [3398], 'position': [3399], 'cocontraction': [3402], 'antagonistic': [3404], 'groups,': [3406], 'consistent': [3407], 'combination': [3410, 3752], 'dystonia13-15': [3414], '5).': [3417], 'significant': [3427], 'impairment,': [3429], 'severe': [3436, 3851, 4135], 'Infantile': [3438], 'axial': [3439, 3486, 3518, 3645, 3684, 3735, 3746, 4141], 'delay': [3444, 3799], 'presenting': [3447, 4131], 'led': [3457], 'distinctive': [3460, 3696], '“frog-like”': [3461, 3697], 'method': [3462], 'observed': [3465, 3539, 3558], '3;': [3477], 'Interestingly,': [3482], 'significantly': [3484], 'reduced': [3485, 3745], '3)': [3503], 'stability': [3505], 'sitting.': [3507], 'Despite': [3508], 'improving': [3511], 'DBS,': [3517], 'did': [3520, 3927], 'improve,': [3522], 'limited': [3525], 'ability.': [3529, 3844], 'posturing': [3537], 'labeling': [3548], 'Generalized': [3554], 'spasms': [3556, 3569, 3604, 3617, 3776], 'separate': [3559], 'consisted': [3570], 'truncal': [3572, 3773], 'extension,': [3573], 'retrocollis,': [3574], 'extension': [3578, 3774], 'lasting': [3579, 3593], '3),': [3586], 'recur': [3590], 'clusters': [3592], 'hours,': [3594], 'especially': [3595], 'intercurrent': [3597, 3619], 'illness.': [3598], 'provoked': [3605], 'laughter': [3607], 'sneezing,': [3609], 'experienced': [3613], 'longer': [3614], 'illness': [3620], 'high': [3622, 4085], 'ambient': [3623], 'temperature.': [3624], 'Gait': [3625], 'delayed': [3631, 3787], 'milestones.': [3633], 'Sitting': [3634], 'achieved': [3636, 3670], '1.5': [3639], 'attributed': [3643], 'walk': [3656, 3730, 3762], 'independently': [3657], '3.': [3662], 'required': [3666], 'gait': [3667, 3679], 'assistance': [3668], '2.5': [3674], '13.': [3677], 'Their': [3678], 'impairment': [3680, 3836], 'secondary': [3682, 3733, 3771], 'Without': [3690], 'walker,': [3692], 'gait—sitting': [3698], 'lying': [3700], 'prone': [3701], 'legs': [3704], 'crossed,': [3705], 'uncrossing': [3707], 'them': [3708], 'propel': [3710], 'body': [3712], 'forward': [3713], 'while': [3714], 'arms': [3717], 'commando': [3719], 'crawl.': [3720], 'adulthood,': [3723], 'lost': [3726], 'ability': [3728, 3760, 3823], 'support': [3732], 'increased': [3738, 3945], 'temporarily': [3743], 'l-dopa': [3756], 'regained': [3758], 'few': [3765], 'years.': [3766], 'improved': [3779], 'clonazepam.': [3781], 'Cognitive': [3782], 'Development': [3783], 'language': [3788, 3822], 'development,': [3789], 'speaking': [3790], 'words': [3792], '7.': [3797], 'Speech': [3798], 'present': [3810, 3877, 4041, 4191], '5.': [3815], 'However,': [3816, 4123], 'subsequently': [3819], 'acquired': [3820], 'normal': [3821, 3856, 3869, 3914, 3922], 'cognition.': [3825], 'disability,': [3830], 'neuropsychological': [3832], 'mild-to-moderate': [3835], 'learning,': [3838], 'reasoning,': [3839], 'complex': [3841], 'problem': [3842], 'solving': [3843], 'Three': [3845, 3935], 'nevertheless': [3854], 'cognitive': [3857, 3870], 'function.': [3858, 3871], 'Both': [3859, 4034], 'Eye': [3872], 'Movements': [3873], 'Abnormal': [3874], 'saccades': [3875, 3898], 'where': [3883], 'eye': [3884, 3917, 3931], 'documented.': [3887], 'saccadic': [3891, 3908, 3916], 'upgaze': [3892], '(with': [3893], 'initiating': [3896], 'horizontal': [3897], 'head': [3900], 'thrust),': [3901], 'prolonged': [3906], 'vertical': [3907, 3915], 'latencies.': [3909], 'Only': [3910], 'pursuit.': [3923], '(K6-1)': [3926], 'examination.': [3933], 'lower': [3939], 'spasticity': [3941], 'tone,': [3946], 'hyper-reflexia,': [3947], 'extensor': [3949], 'plantar': [3950], 'responses.': [3951], 'Studies': [3953], 'Each': [3954], 'K1': [3960, 3990], 'K4': [3962], 'mutation.3,': [3970], 'K4-1.': [3982], 'None': [3983], 'K2': [3992], '(including': [3993], 'testing.': [4002], 'Genotyping': [4003], 'K1,': [4010], 'K3': [4013], 'shared': [4016], 'haplotype.': [4017], 'heterozygous': [4024], 'missense': [4025], '(c.1252C>G;': [4027], 'R418G': [4029], 'c.1253G>A;': [4031], 'p.R418Q,': [4032], 'respectively).': [4033], '>60,000': [4043], 'exomes': [4044], 'ExAC': [4047], 'Browser,': [4048], 'amino': [4051], 'acid': [4052], 'affect': [4054], 'highly': [4056], 'conserved': [4057], 'throughout': [4058], 'different': [4059, 4074], 'species': [4060], 'predicted': [4068], 'pathogenic': [4071], 'tools': [4076], 'indicated': [4082], 'very': [4084], 'CADD': [4086], 'scores': [4087], 'Mutations': [4091], 'excluded': [4099], 'Phenotype-Genotype': [4106], 'Correlations': [4107], 'Given': [4108], 'relatively': [4110], 'small': [4111], 'number': [4112], 'families,': [4114], 'definitive': [4115], 'conclusions': [4116], 'about': [4117], 'phenotype-genotype': [4118], 'correlation': [4119], 'possible.': [4122], 'terms': [4138], 'dyskinesias,': [4140], 'developmental': [4145], 'mutations,': [4166, 4227], 'respectively.': [4167], 'Discussion': [4168], 'To': [4169], 'date,': [4170], 'literature.1,': [4186], '3-5,': [4187], '16': [4188], 'study,': [4192], '(4': [4204], 'belonging': [4205], 'families': [4209], 'cases).': [4213], 'significance': [4218], 'given': [4219], 'that,': [4220], 'reporting': [4224], 'clearly': [4232], 'disease.': [4239], 'Spectrum': [4241], 'Mutati': [4244]}, 'cited_by_api_url': 'https://api.openalex.org/works?filter=cites:W2336148333', 'counts_by_year': [{'year': 2024, 'cited_by_count': 4}, {'year': 2023, 'cited_by_count': 9}, {'year': 2022, 'cited_by_count': 12}, {'year': 2021, 'cited_by_count': 9}, {'year': 2020, 'cited_by_count': 20}, {'year': 2019, 'cited_by_count': 19}, {'year': 2018, 'cited_by_count': 15}, {'year': 2017, 'cited_by_count': 13}, {'year': 2016, 'cited_by_count': 6}], 'updated_date': '2024-09-05T11:46:09.674573', 'created_date': '2016-06-24'}