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Alternating hemiplegia of childhood(AHC1)

MedGen UID:
90925
Concept ID:
C0338488
Disease or Syndrome
Synonyms: AHC1; Alternating hemiplegia; Alternating hemiplegia syndrome
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Sources: HPO, OMIM, Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
not genetically inherited
MedGen UID:
832438
Concept ID:
CN227390
Finding
Source: Orphanet
clinical entity without genetic inheritance.
Autosomal dominant inheritance (HPO, OMIM, Orphanet)
SNOMED CT: Alternating hemiplegia of childhood (230466004)
 
OMIM® Phenotypic series: PS104290
Orphanet: ORPHA2131

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAlternating hemiplegia of childhood
Follow this link to review classifications for Alternating hemiplegia of childhood in Orphanet.

Recent clinical studies

Etiology

Ito T, Narugami M, Egawa K, Yamamoto H, Asahina N, Kohsaka S, Ishii A, Hirose S, Shiraishi H
Brain Dev 2018 Mar;40(3):226-228. doi: 10.1016/j.braindev.2017.11.007. PMID: 29269014
Jaffer F, Avbersek A, Vavassori R, Fons C, Campistol J, Stagnaro M, De Grandis E, Veneselli E, Rosewich H, Gianotta M, Zucca C, Ragona F, Granata T, Nardocci N, Mikati M, Helseth AR, Boelman C, Minassian BA, Johns S, Garry SI, Scheffer IE, Gourfinkel-An I, Carrilho I, Aylett SE, Parton M, Hanna MG, Houlden H, Neville B, Kurian MA, Novy J, Sander JW, Lambiase PD, Behr ER, Schyns T, Arzimanoglou A, Cross JH, Kaski JP, Sisodiya SM
Brain 2015 Oct;138(Pt 10):2859-74. Epub 2015 Aug 21 doi: 10.1093/brain/awv243. PMID: 26297560Free PMC Article
Sweney MT, Newcomb TM, Swoboda KJ
Pediatr Neurol 2015 Jan;52(1):56-64. Epub 2014 Oct 13 doi: 10.1016/j.pediatrneurol.2014.09.015. PMID: 25447930Free PMC Article
Boelman C, Lagman-Bartolome AM, MacGregor DL, McCabe J, Logan WJ, Minassian BA
Pediatr Neurol 2014 Dec;51(6):850-3. Epub 2014 Aug 29 doi: 10.1016/j.pediatrneurol.2014.08.015. PMID: 25439493
Vollono C, Rinalduzzi S, Miliucci R, Vigevano F, Valeriani M
Eur J Neurol 2014 Dec;21(12):1478-e97. Epub 2014 Jul 17 doi: 10.1111/ene.12516. PMID: 25041520

Diagnosis

Simmons CQ, Thompson CH, Cawthon BE, Westlake G, Swoboda KJ, Kiskinis E, Ess KC, George AL Jr
Neurobiol Dis 2018 Jul;115:29-38. Epub 2018 Mar 19 doi: 10.1016/j.nbd.2018.03.009. PMID: 29567111
Gurrieri F, Tiziano FD, Zampino G, Neri G
Am J Med Genet A 2016 Oct;170(10):2698-705. Epub 2016 Jun 17 doi: 10.1002/ajmg.a.37808. PMID: 27312461
Jaffer F, Avbersek A, Vavassori R, Fons C, Campistol J, Stagnaro M, De Grandis E, Veneselli E, Rosewich H, Gianotta M, Zucca C, Ragona F, Granata T, Nardocci N, Mikati M, Helseth AR, Boelman C, Minassian BA, Johns S, Garry SI, Scheffer IE, Gourfinkel-An I, Carrilho I, Aylett SE, Parton M, Hanna MG, Houlden H, Neville B, Kurian MA, Novy J, Sander JW, Lambiase PD, Behr ER, Schyns T, Arzimanoglou A, Cross JH, Kaski JP, Sisodiya SM
Brain 2015 Oct;138(Pt 10):2859-74. Epub 2015 Aug 21 doi: 10.1093/brain/awv243. PMID: 26297560Free PMC Article
Mangano S, Fontana A, Spitaleri C, Mangano GR
Brain Dev 2014 May;36(5):408-10. Epub 2013 Jun 29 doi: 10.1016/j.braindev.2013.06.004. PMID: 23820111
De Grandis E, Stagnaro M, Biancheri R, Giannotta M, Gobbi G, Traverso M, Veneselli E, Zara F
J Child Neurol 2013 Jul;28(7):863-6. Epub 2012 Aug 16 doi: 10.1177/0883073812452789. PMID: 22899793

Therapy

Hainque E, Caillet S, Leroy S, Flamand-Roze C, Adanyeguh I, Charbonnier-Beaupel F, Retail M, Le Toullec B, Atencio M, Rivaud-Péchoux S, Brochard V, Habarou F, Ottolenghi C, Cormier F, Méneret A, Ruiz M, Doulazmi M, Roubergue A, Corvol JC, Vidailhet M, Mochel F, Roze E
Orphanet J Rare Dis 2017 Oct 2;12(1):160. doi: 10.1186/s13023-017-0713-2. PMID: 28969699Free PMC Article
Pisciotta L, Gherzi M, Stagnaro M, Calevo MG, Giannotta M, Vavassori MR, Veneselli E; I.B.AHC Consortium., De Grandis E
Brain Dev 2017 Jun;39(6):521-528. Epub 2017 Feb 27 doi: 10.1016/j.braindev.2017.02.001. PMID: 28249736
Ju J, Hirose S, Shi XY, Ishii A, Hu LY, Zou LP
Orphanet J Rare Dis 2016 May 4;11(1):55. doi: 10.1186/s13023-016-0438-7. PMID: 27146299Free PMC Article
Kansagra S, Mikati MA, Vigevano F
Handb Clin Neurol 2013;112:821-6. doi: 10.1016/B978-0-444-52910-7.00001-5. PMID: 23622289
Incorpora G, Pavone P, Polizzi A, Cocuzza M, Privitera M, Pavone L, Ruggieri M
J Child Neurol 2012 May;27(5):657-62. Epub 2012 Feb 28 doi: 10.1177/0883073811436249. PMID: 22378663

Prognosis

Maas RPPWM, Kamsteeg EJ, Mangano S, Vázquez López ME, Nicolai J, Silver K, Fernández-Alvarez E, Willemsen MAAP
Eur J Paediatr Neurol 2018 Nov;22(6):1110-1117. Epub 2018 Aug 15 doi: 10.1016/j.ejpn.2018.07.012. PMID: 30194039
Ito T, Narugami M, Egawa K, Yamamoto H, Asahina N, Kohsaka S, Ishii A, Hirose S, Shiraishi H
Brain Dev 2018 Mar;40(3):226-228. doi: 10.1016/j.braindev.2017.11.007. PMID: 29269014
Panagiotakaki E, De Grandis E, Stagnaro M, Heinzen EL, Fons C, Sisodiya S, de Vries B, Goubau C, Weckhuysen S, Kemlink D, Scheffer I, Lesca G, Rabilloud M, Klich A, Ramirez-Camacho A, Ulate-Campos A, Campistol J, Giannotta M, Moutard ML, Doummar D, Hubsch-Bonneaud C, Jaffer F, Cross H, Gurrieri F, Tiziano D, Nevsimalova S, Nicole S, Neville B, van den Maagdenberg AM, Mikati M, Goldstein DB, Vavassori R, Arzimanoglou A; Italian IBAHC Consortium.; French AHC Consortium.; International AHC Consortium.
Orphanet J Rare Dis 2015 Sep 26;10:123. doi: 10.1186/s13023-015-0335-5. PMID: 26410222Free PMC Article
Di Michele M, Goubau C, Waelkens E, Thys C, De Vos R, Overbergh L, Schyns T, Buyse G, Casaer P, Van Geet C, Freson K
J Proteomics 2013 Jun 28;86:53-69. Epub 2013 May 13 doi: 10.1016/j.jprot.2013.05.005. PMID: 23681173
Kirshenbaum GS, Dawson N, Mullins JG, Johnston TH, Drinkhill MJ, Edwards IJ, Fox SH, Pratt JA, Brotchie JM, Roder JC, Clapcote SJ
PLoS One 2013;8(3):e60141. Epub 2013 Mar 20 doi: 10.1371/journal.pone.0060141. PMID: 23527305Free PMC Article

Clinical prediction guides

Polanowska KE, Dzieżyc K, Rosewich H, Ohlenbusch A, Seniów JB
Cogn Behav Neurol 2018 Dec;31(4):214-219. doi: 10.1097/WNN.0000000000000178. PMID: 30562231
Simmons CQ, Thompson CH, Cawthon BE, Westlake G, Swoboda KJ, Kiskinis E, Ess KC, George AL Jr
Neurobiol Dis 2018 Jul;115:29-38. Epub 2018 Mar 19 doi: 10.1016/j.nbd.2018.03.009. PMID: 29567111
Hainque E, Caillet S, Leroy S, Flamand-Roze C, Adanyeguh I, Charbonnier-Beaupel F, Retail M, Le Toullec B, Atencio M, Rivaud-Péchoux S, Brochard V, Habarou F, Ottolenghi C, Cormier F, Méneret A, Ruiz M, Doulazmi M, Roubergue A, Corvol JC, Vidailhet M, Mochel F, Roze E
Orphanet J Rare Dis 2017 Oct 2;12(1):160. doi: 10.1186/s13023-017-0713-2. PMID: 28969699Free PMC Article
Masoud M, Gordon K, Hall A, Jasien J, Lardinois K, Uchitel J, Mclean M, Prange L, Wuchich J, Mikati MA
Dev Med Child Neurol 2017 Aug;59(8):822-828. Epub 2017 May 25 doi: 10.1111/dmcn.13443. PMID: 28543714
Heinzen EL, Swoboda KJ, Hitomi Y, Gurrieri F, Nicole S, de Vries B, Tiziano FD, Fontaine B, Walley NM, Heavin S, Panagiotakaki E; European Alternating Hemiplegia of Childhood (AHC) Genetics Consortium.; Biobanca e Registro Clinico per l'Emiplegia Alternante (I.B.AHC) Consortium.; European Network for Research on Alternating Hemiplegia (ENRAH) for Small and Medium-sized Enterpriese (SMEs) Consortium., Fiori S, Abiusi E, Di Pietro L, Sweney MT, Newcomb TM, Viollet L, Huff C, Jorde LB, Reyna SP, Murphy KJ, Shianna KV, Gumbs CE, Little L, Silver K, Ptáček LJ, Haan J, Ferrari MD, Bye AM, Herkes GK, Whitelaw CM, Webb D, Lynch BJ, Uldall P, King MD, Scheffer IE, Neri G, Arzimanoglou A, van den Maagdenberg AM, Sisodiya SM, Mikati MA, Goldstein DB
Nat Genet 2012 Sep;44(9):1030-4. Epub 2012 Jul 29 doi: 10.1038/ng.2358. PMID: 22842232Free PMC Article

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