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Abnormality of the somatic nervous system

MedGen UID:
892889
Concept ID:
C4073188
Anatomical Abnormality
HPO: HP:0410009

Definition

Any abnormality of the part of the peripheral nervous system associated with sensation and skeletal muscle voluntary control of body movements. [from HPO]

Professional guidelines

PubMed

Muehlan C, Roch C, Vaillant C, Dingemanse J
J Sleep Res 2023 Dec;32(6):e13902. Epub 2023 Apr 22 doi: 10.1111/jsr.13902. PMID: 37086045
Conroy SK, Holtzheimer PE
Am J Psychiatry 2021 Dec;178(12):1082-1088. doi: 10.1176/appi.ajp.2021.21101034. PMID: 34855452
Tournier-Lasserve E
Methods Mol Biol 2020;2152:49-57. doi: 10.1007/978-1-0716-0640-7_4. PMID: 32524543

Recent clinical studies

Therapy

Muehlan C, Roch C, Vaillant C, Dingemanse J
J Sleep Res 2023 Dec;32(6):e13902. Epub 2023 Apr 22 doi: 10.1111/jsr.13902. PMID: 37086045
Scarpa M, Lourenço CM, Amartino H
Mol Genet Metab 2017 Dec;122S:55-61. Epub 2017 Oct 16 doi: 10.1016/j.ymgme.2017.10.006. PMID: 29170080
Shapiro EG, Escolar ML, Delaney KA, Mitchell JJ
Mol Genet Metab 2017 Dec;122S:8-16. Epub 2017 Sep 15 doi: 10.1016/j.ymgme.2017.09.007. PMID: 29128371
Higueros E, Roe E, Granell E, Baselga E
Actas Dermosifiliogr 2017 Jun;108(5):407-417. Epub 2017 Jan 23 doi: 10.1016/j.ad.2016.09.022. PMID: 28126187
Dörrie N, Föcker M, Freunscht I, Hebebrand J
Eur Child Adolesc Psychiatry 2014 Oct;23(10):863-75. Epub 2014 Jun 26 doi: 10.1007/s00787-014-0571-6. PMID: 24965796

Prognosis

Barba C, Blumcke I, Winawer MR, Hartlieb T, Kang HC, Grisotto L, Chipaux M, Bien CG, Heřmanovská B, Porter BE, Lidov HGW, Cetica V, Woermann FG, Lopez-Rivera JA, Canoll PD, Mader I, D'Incerti L, Baldassari S, Yang E, Gaballa A, Vogel H, Straka B, Macconi L, Polster T, Grant GA, Krsková L, Shin HJ, Ko A, Crino PB, Krsek P, Lee JH, Lal D, Baulac S, Poduri A, Guerrini R; SLC35A2 Study Group
Neurology 2023 Jan 31;100(5):e528-e542. Epub 2022 Oct 28 doi: 10.1212/WNL.0000000000201471. PMID: 36307217Free PMC Article
Hoffmann L, Blümcke I
Curr Opin Neurol 2022 Apr 1;35(2):202-207. doi: 10.1097/WCO.0000000000001030. PMID: 35067500
Hong T, Xiao X, Ren J, Cui B, Zong Y, Zou J, Kou Z, Jiang N, Meng G, Zeng G, Shan Y, Wu H, Chen Z, Liang J, Xiao X, Tang J, Wei Y, Ye M, Sun L, Li G, Hu P, Hui R, Zhang H, Wang Y
Brain 2021 Oct 22;144(9):2648-2658. doi: 10.1093/brain/awab117. PMID: 33729480
Ottaviani C
Psychophysiology 2018 Jul;55(7):e13082. Epub 2018 Apr 1 doi: 10.1111/psyp.13082. PMID: 29607505
Higueros E, Roe E, Granell E, Baselga E
Actas Dermosifiliogr 2017 Jun;108(5):407-417. Epub 2017 Jan 23 doi: 10.1016/j.ad.2016.09.022. PMID: 28126187

Clinical prediction guides

Barba C, Blumcke I, Winawer MR, Hartlieb T, Kang HC, Grisotto L, Chipaux M, Bien CG, Heřmanovská B, Porter BE, Lidov HGW, Cetica V, Woermann FG, Lopez-Rivera JA, Canoll PD, Mader I, D'Incerti L, Baldassari S, Yang E, Gaballa A, Vogel H, Straka B, Macconi L, Polster T, Grant GA, Krsková L, Shin HJ, Ko A, Crino PB, Krsek P, Lee JH, Lal D, Baulac S, Poduri A, Guerrini R; SLC35A2 Study Group
Neurology 2023 Jan 31;100(5):e528-e542. Epub 2022 Oct 28 doi: 10.1212/WNL.0000000000201471. PMID: 36307217Free PMC Article
López-Rivera JA, Leu C, Macnee M, Khoury J, Hoffmann L, Coras R, Kobow K, Bhattarai N, Pérez-Palma E, Hamer H, Brandner S, Rössler K, Bien CG, Kalbhenn T, Pieper T, Hartlieb T, Butler E, Genovese G, Becker K, Altmüller J, Niestroj LM, Ferguson L, Busch RM, Nürnberg P, Najm I, Blümcke I, Lal D
Brain 2023 Apr 19;146(4):1342-1356. doi: 10.1093/brain/awac376. PMID: 36226386Free PMC Article
Baldassari S, Ribierre T, Marsan E, Adle-Biassette H, Ferrand-Sorbets S, Bulteau C, Dorison N, Fohlen M, Polivka M, Weckhuysen S, Dorfmüller G, Chipaux M, Baulac S
Acta Neuropathol 2019 Dec;138(6):885-900. Epub 2019 Aug 23 doi: 10.1007/s00401-019-02061-5. PMID: 31444548Free PMC Article
Pavlovic D, Pekic S, Stojanovic M, Popovic V
Pituitary 2019 Jun;22(3):270-282. doi: 10.1007/s11102-019-00957-9. PMID: 30929221
Mertens J, Wang QW, Kim Y, Yu DX, Pham S, Yang B, Zheng Y, Diffenderfer KE, Zhang J, Soltani S, Eames T, Schafer ST, Boyer L, Marchetto MC, Nurnberger JI, Calabrese JR, Ødegaard KJ, McCarthy MJ, Zandi PP, Alda M, Nievergelt CM; Pharmacogenomics of Bipolar Disorder Study, Mi S, Brennand KJ, Kelsoe JR, Gage FH, Yao J
Nature 2015 Nov 5;527(7576):95-9. Epub 2015 Oct 28 doi: 10.1038/nature15526. PMID: 26524527Free PMC Article

Recent systematic reviews

Salehi MA, Mohammadi S, Gouravani M, Javidi A, Dager SR
Hum Brain Mapp 2022 Dec 15;43(18):5658-5680. Epub 2022 Jul 20 doi: 10.1002/hbm.26015. PMID: 35855597Free PMC Article
Daetwyler E, Bargetzi M, Otth M, Scheinemann K
BMC Cancer 2022 Mar 14;22(1):267. doi: 10.1186/s12885-021-09145-0. PMID: 35287628Free PMC Article
Bameri O, Salarzaei M, Parooie F
Interv Neuroradiol 2021 Aug;27(4):539-546. Epub 2021 Jan 5 doi: 10.1177/1591019920982810. PMID: 33401991Free PMC Article
Barthel FP, Wesseling P, Verhaak RGW
Acta Neuropathol 2018 May;135(5):649-670. Epub 2018 Apr 3 doi: 10.1007/s00401-018-1842-y. PMID: 29616301Free PMC Article
Chen YZ, Gao Q, Zhao XZ, Chen YZ, Bennett CL, Xiong XS, Mei CL, Shi YQ, Chen XM
Chin Med J (Engl) 2010 Nov;123(22):3326-33. PMID: 21163139

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