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Quoted phrase not found in phrase index: "Migraine, familial hemiplegic, 2"
Page 1
A Chinese family with familial hemiplegic migraine type 2 due to a novel missense mutation in ATP1A2.
Tang W, Zhang M, Qiu E, Kong S, Li Y, Liu H, Dong Z, Yu S. Tang W, et al. Cephalalgia. 2019 Oct;39(11):1382-1395. doi: 10.1177/0333102419847738. Epub 2019 May 3. Cephalalgia. 2019. PMID: 31053037
Seven online softwares (SIFT, PolyPhen-2, PROVEAN, PANTHER, MutationTaster2, MutationAssessor and PMut) were used for predicting the pathogenic potential of the mutation. PredictProtein, Jpred 4 and PyMOL were used to analyze structural changes of the protein. ...Th …
Seven online softwares (SIFT, PolyPhen-2, PROVEAN, PANTHER, MutationTaster2, MutationAssessor and PMut) were used for predicting the …
Serial magnetic resonance imaging findings during severe attacks of familial hemiplegic migraine type 2: a case report.
Fear D, Patel M, Zand R. Fear D, et al. BMC Neurol. 2021 Apr 21;21(1):173. doi: 10.1186/s12883-021-02201-z. BMC Neurol. 2021. PMID: 33882852 Free PMC article.
Description of the various mutations and consequential presentations may assist neurologists in identifying cases of Hemiplegic Migraine, which may include transient changes in ADC and DWI imaging throughout the course of an attack....
Description of the various mutations and consequential presentations may assist neurologists in identifying cases of Hemiplegic Migraine, wh …
Biallelic loss of function variants in ATP1A2 cause hydrops fetalis, microcephaly, arthrogryposis and extensive cortical malformations.
Monteiro FP, Curry CJ, Hevner R, Elliott S, Fisher JH, Turocy J, Dobyns WB, Costa LA, Freitas E, Kitajima JP, Kok F. Monteiro FP, et al. Eur J Med Genet. 2020 Jan;63(1):103624. doi: 10.1016/j.ejmg.2019.01.014. Epub 2019 Jan 25. Eur J Med Genet. 2020. PMID: 30690204
At birth they had multiple joint contractures (e.g. arthrogryposis), microcephaly, malformations of cortical development, dysmorphic features and severe respiratory insufficiency. Biallelic loss of function variants in ATP1A2, predicted to be pathogenic were found on whole …
At birth they had multiple joint contractures (e.g. arthrogryposis), microcephaly, malformations of cortical development, dysmorphic feature …
A novel ATP1A2 variant associated with severe stepwise regression, hemiplegia, epilepsy and movement disorders in two unrelated patients.
Calame DG, Houck K, Lotze T, Emrick L, Parnes M. Calame DG, et al. Eur J Paediatr Neurol. 2021 Mar;31:21-26. doi: 10.1016/j.ejpn.2021.01.004. Epub 2021 Jan 16. Eur J Paediatr Neurol. 2021. PMID: 33578253
Here we describe two unrelated patients with infantile onset hemiplegic attacks, refractory epilepsy, movement disorders, abnormal eye movements and truncal ataxia with a shared de novo variant in ATP1A2, c.2438T > A (p.Met813Lys). The variant is not found in population databa …
Here we describe two unrelated patients with infantile onset hemiplegic attacks, refractory epilepsy, movement disorders, abnormal eye movem …