table of contents volume 5, number 6, december 2019
TRANSCRIPT
TABLE OF CONTENTS Volume 5, Number 6, December 2019 Neurology.org/NG
Editorials
e368 Headaches and polygenic scoresB.J. Vilhjalmsson and F. Prive
Open Access Companion article, e364
e380 Rating scales for rare neurological diseases: What arewe learning from Friedreich ataxia?M. Pandolfo
Open Access Companion article, e371
Articles
e363 Epilepsy with migrating focal seizures: KCNT1mutation hotspots and phenotype variabilityG. Barcia, N. Chemaly, M. Kuchenbuch, M. Eisermann,S. Gobin-Limballe, V. Ciorna, A. Macaya, L. Lambert, F. Dubois,D. Doummar, T. Billette de Villemeur, N. Villeneuve, M.-A. Barthez,C. Nava, N. Boddaert, A. Kaminska, N. Bahi-Buisson, M. Milh,S. Auvin, J.-P. Bonnefont, and R. Nabbout
Open Access
e364 Migraine polygenic risk score associates with efficacyof migraine-specific drugsL.J.A. Kogelman, A.-L. Esserlind, A. Francke Christensen, S. Awasthi,S. Ripke, A. Ingason, O.B. Davidsson, C. Erikstrup, H. Hjalgrim,H. Ullum, J. Olesen, and T. Folkmann Hansen,DBDS Genomic Consortium, The International Headache GeneticsConsortium
Open Access Editorial, e380
e366 GNA11 brain somatic pathogenic variant in anindividual with phacomatosis pigmentovascularisJ.M. Sliepka, S.C. McGriff, L.Z. Rossetti, P. Bizargity, H. Streff,Y.-S. Lee, H. Dai, S. Polubothu, G. Lee, V. Ren, J.V. Hunter,D.J. Curry, F. Scaglia, A.M. Adesina, I. Ali, V. Kinsler,L.C. Burrage, and D. Marafi
Open Access
e367 Yield of comparative genomic hybridizationmicroarray in pediatric neurology practiceS. Misra, G. Peters, E. Barnes, S. Ardern-Holmes, R. Webster,C. Troedson, S.S. Mohammad, D. Gill, M. Menezes, S. Gupta,P. Procopis, J. Antony, M.A. Kurian, and R.C. Dale
Open Access
e369 Clinical spectrum of POLR3-related leukodystrophycaused by biallelic POLR1C pathogenic variantsL. Gauquelin, F.K. Cayami, L. Sztriha, G. Yoon, L.T. Tran, K. Guerrero,F.E. Hocke, R.M.L. van Spaendonk, E.L. Fung, S. D’Arrigo, G. Vasco,I. Thiffault, D.M. Niyazov, R. Person, K.S. Lewis, E. Wassmer,T. Prescott, P. Fallon, M. McEntagart, J. Rankin, R. Webster,H. Philippi, B. van de Warrenburg, D. Timmann, A. Dixit, andC. Searle, N. Thakur, M.C. Kruer, S. Sharma, A. Vanderver,D. Tonduti, M.S. van der Knaap, E. Bertini, C. Goizet, S. Fribourg,N.I. Wolf, and G. Bernard
Open Access
e370 CNS manifestations in patients with telomerebiology disordersS. Bhala, A.F. Best, N. Giri, B.P. Alter, M. Pao, A. Gropman,E.H. Baker, and S.A. Savage
Open Access
e371 Psychometric properties of the Friedreich AtaxiaRating ScaleC.Rummey, L.A. Corben,M.B.Delatycki, S.H. Subramony, K. Bushara,C.M. Gomez, J.C. Hoyle, G. Yoon, B. Ravina, K.D. Mathews, G. Wilmot,T. Zesiewicz, S. Perlman, J.M. Farmer, and D.R. Lynch
Open Access Editorial, e368
e372 Methylation hotspots evidenced by deep sequencingin patients with facioscapulohumeral dystrophyand mosaicismS. Roche, C. Dion, N. Broucqsault, C. Laberthonniere, M.-C. Gaillard,J.D. Robin, A. Lagarde, F. Puppo, C. Vovan, C. Chaix, E.S. Campana,S. Attarian, M. Bartoli, R. Bernard, K. Nguyen, and F. Magdinier
Open Access
e373 Defining and expanding the phenotype ofQARS-associated developmental epilepticencephalopathyK.M. Johannesen, D. Mitter, R. Janowski, C. Roth, J. Toulouse,A.-L. Poulat, D.M. Ville, N. Chatron, E. Brilstra, K. Geleijns, A.P. Born,S. McLean, K. Nugent, G. Baynam, C. Poulton, L. Dreyer, D. Gration,S. Schulz, A. Dieckmann, K.L. Helbig, A. Merkenschlager, R. Jamra,A. Finck, E. Gardella, H. Hjalgrim, G. Mirzaa, F. Brancati, T. Bierhals,J. Denecke, M. Hempel, J.R. Lemke, G. Rubboli, P. Muschke,R. Guerrini, A. Vetro, D. Niessing, G. Lesca, and R.S. Møller
Open Access
e374 Spastic paraplegia due to recessive or dominantmutations in ERLIN2 can convert to ALSM.-D.-M. Amador, F. Muratet, E. Teyssou, G. Banneau,V. Danel-Brunaud, E. Allart, J.-C. Antoine, J.-P. Camdessanche,M. Anheim, G. Rudolf, C. Tranchant, M.-C. Fleury, E. Bernard,G. Stevanin, and S. Millecamps
Open Access
e375 Identification of TYW3/CRYZ and FGD4 assusceptibility genes for amyotrophic lateral sclerosisL. Wei, Y. Tian, Y. Chen, Q. Wei, F. Chen, B. Cao, Y. Wu, B. Zhao,X. Chen, C. Xie, C. Xi, X. Yu, J. Wang, X. Lv, J. Du, Y. Wang, L. Shen,X. Wang, B. Shen, Q. Guo, L. Guo, K. Xia, P. Xie, X. Zhang, X. Zuo,H. Shang, and K. Wang
Open Access
e378 Critical exon indexing improves clinicalinterpretation of copy number variants inneurodevelopmental disordersE.R. Wassman, K.S. Ho, D. Bertrand, K.W. Davis, M.M. Martin,S. Page, A. Peiffer, A. Prasad, M.A. Serrano, H. Twede, R. Vanzo,S.W. Scherer, M. Uddin, and C.H. Hensel
Open Access
Clinical/Scientific Notes
e365 Deoxysphingolipids as candidate biomarkers for anovel SPTLC1 mutation associated with HSAN-IF. Boso, A. Armirotti, F. Taioli, M. Ferrarini, L. Nobbio,T. Cavallaro, and G.M. Fabrizi
Open Access
e376 Myelopathy in a patient with leukodystrophy due toCSF1R mutationV.M. Ho, D.A. Hovsepian, and P.B. Shieh
Open Access
e377 Galloping tongue syndrome in a PRRT2mutation carrierD. Vilas, A. Marce-Grau, A. Macaya, J. Valls-Sole, and E. Tolosa
Open Access Video
e379 Further supporting evidence for REEP1 phenotypicand allelic heterogeneityR. Maroofian, M. Behnam, R. Kaiyrzhanov, V. Salpietro,M. Salehi, and H. Houlden
Open Access Video
Cover imageManhattan plot of the genome-wide association results from thediscovery analysis exploring the genetic etiology of amyotrophic lateralsclerosis in the Chinese Han population. Stylized by Kaitlyn AmanRamm, Neurology Editorial Assistant.See e375
TABLE OF CONTENTS Volume 5, Number 6, December 2019 Neurology.org/NG
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2019;5;e365 Neurol Genet 5 (6)
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