Cannon S
Handb Clin Neurol. 2024; 203:39-58.
PMID: 39174253
PMC: 11556526.
DOI: 10.1016/B978-0-323-90820-7.00002-1.
Haj Mohammad Hassani B, Malekzadeh K
Neurogenetics. 2024; 25(4):417-424.
PMID: 39046620
DOI: 10.1007/s10048-024-00775-7.
Ng A, Chahine M, Scantlebury M, Appendino J
J Neurol. 2024; 271(6):3063-3094.
PMID: 38607431
DOI: 10.1007/s00415-024-12352-x.
Panagiotakaki E, Tiziano F, Mikati M, Vijfhuizen L, Nicole S, Lesca G
Eur J Hum Genet. 2023; 32(2):224-231.
PMID: 38097767
PMC: 10853263.
DOI: 10.1038/s41431-023-01489-4.
Zhang X, Qiu S, Yang L, Li Y, Xu L, Xu N
Mol Genet Genomic Med. 2023; 11(5):e2146.
PMID: 36749827
PMC: 10178798.
DOI: 10.1002/mgg3.2146.
Developmental and epileptic encephalopathies: from genetic heterogeneity to phenotypic continuum.
Guerrini R, Conti V, Mantegazza M, Balestrini S, Galanopoulou A, Benfenati F
Physiol Rev. 2022; 103(1):433-513.
PMID: 35951482
PMC: 9576177.
DOI: 10.1152/physrev.00063.2021.
Recurrent de novo mutations in CLDN5 induce an anion-selective blood-brain barrier and alternating hemiplegia.
Hashimoto Y, Poirier K, Boddaert N, Hubert L, Aubart M, Kaminska A
Brain. 2022; 145(10):3374-3382.
PMID: 35714222
PMC: 9586545.
DOI: 10.1093/brain/awac215.
Alternating Hemiplegia of Childhood: neurological comorbidities and intrafamilial variability.
Pavone P, Pappalardo X, Mustafa N, Cho S, Jin D, Incorpora G
Ital J Pediatr. 2022; 48(1):29.
PMID: 35177115
PMC: 8851838.
DOI: 10.1186/s13052-021-01194-2.
Functional correlation of ATP1A2 mutations with phenotypic spectrum: from pure hemiplegic migraine to its variant forms.
Li Y, Tang W, Kang L, Kong S, Dong Z, Zhao D
J Headache Pain. 2021; 22(1):92.
PMID: 34384358
PMC: 8359390.
DOI: 10.1186/s10194-021-01309-4.
A case report of atypical hemiplegic migraine with nonheadache onset in a Chinese child.
Chen H, Sun X, Wang R, Yi Z, Huang Z, Xie J
BMC Neurol. 2021; 21(1):267.
PMID: 34229663
PMC: 8258926.
DOI: 10.1186/s12883-021-02302-9.
Alternating Hemiplegia of Childhood: Genotype-Phenotype Correlations in a Cohort of 39 Italian Patients.
Cordani R, Stagnaro M, Pisciotta L, Tiziano F, Calevo M, Nobili L
Front Neurol. 2021; 12:658451.
PMID: 33897609
PMC: 8060701.
DOI: 10.3389/fneur.2021.658451.
De novo ATP1A2 variants in two Chinese children with alternating hemiplegia of childhood upgraded the gene-disease relationship and variant classification: a case report.
Huang D, Liu M, Wang H, Zhang B, Zhao D, Ling W
BMC Med Genomics. 2021; 14(1):95.
PMID: 33794876
PMC: 8017680.
DOI: 10.1186/s12920-021-00947-6.
Decreased content of ascorbic acid (vitamin C) in the brain of knockout mouse models of Na+,K+-ATPase-related neurologic disorders.
Ikeda K, Tienda A, Harrison F, Kawakami K
PLoS One. 2021; 16(2):e0246678.
PMID: 33544780
PMC: 7864419.
DOI: 10.1371/journal.pone.0246678.
Comprehensive Exonic Sequencing of Hemiplegic Migraine-Related Genes in a Cohort of Suspected Probands Identifies Known and Potential Pathogenic Variants.
Sutherland H, Maksemous N, Albury C, Ibrahim O, Smith R, Lea R
Cells. 2020; 9(11).
PMID: 33126486
PMC: 7693486.
DOI: 10.3390/cells9112368.
Molecular genetic and mitochondrial metabolic analyses confirm the suspected mitochondrial etiology in a pediatric patient with an atypical form of alternating hemiplegia of childhood.
Gropman A, Uittenbogaard M, Brantner C, Wang Y, Wong L, Chiaramello A
Mol Genet Metab Rep. 2020; 24:100609.
PMID: 32489883
PMC: 7262444.
DOI: 10.1016/j.ymgmr.2020.100609.
Advances in genetics of migraine.
Sutherland H, Albury C, Griffiths L
J Headache Pain. 2019; 20(1):72.
PMID: 31226929
PMC: 6734342.
DOI: 10.1186/s10194-019-1017-9.
A novel ATP1A2 mutation in a patient with hypokalaemic periodic paralysis and CNS symptoms.
Sampedro Castaneda M, Zanoteli E, Scalco R, Scaramuzzi V, Caldas V, Reed U
Brain. 2018; 141(12):3308-3318.
PMID: 30423015
PMC: 6262219.
DOI: 10.1093/brain/awy283.
Genetic defects disrupting glial ion and water homeostasis in the brain.
Min R, van der Knaap M
Brain Pathol. 2018; 28(3):372-387.
PMID: 29740942
PMC: 8028498.
DOI: 10.1111/bpa.12602.
[Diagnosis of alternating hemiplegia of childhood].
Luo R
Zhongguo Dang Dai Er Ke Za Zhi. 2017; 19(9):959-961.
PMID: 28899462
PMC: 7403063.
Ion channelopathies and migraine pathogenesis.
Albury C, Stuart S, Haupt L, Griffiths L
Mol Genet Genomics. 2017; 292(4):729-739.
PMID: 28389699
DOI: 10.1007/s00438-017-1317-1.
