1 |
ATP1A3 mutations and genotype-phenotype correlation of alternating hemiplegia of childhood in Chinese patients.
38
71
|
Yang X...Zhang Y
|
24842602
|
2014 |
2 |
De novo mutations in ATP1A3 cause alternating hemiplegia of childhood.
38
71
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Heinzen EL...Goldstein DB
|
22842232
|
2012 |
3 |
Heterozygous de-novo mutations in ATP1A3 in patients with alternating hemiplegia of childhood: a whole-exome sequencing gene-identification study.
38
71
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Rosewich H...Gartner J
|
22850527
|
2012 |
4 |
ATP1A3-Related Neurologic Disorders
38
71
|
Brashear A...Ozelius L
|
20301294
|
2008 |
5 |
A novel mutation in the ATP1A2 gene causes alternating hemiplegia of childhood.
38
71
|
Bassi MT...Casari G
|
15286158
|
2004 |
6 |
Alternating hemiplegia of childhood or familial hemiplegic migraine? A novel ATP1A2 mutation.
38
71
|
Swoboda KJ...Youroukos S
|
15174025
|
2004 |
7 |
Alternating hemiplegia of childhood: a syndrome inherited with an autosomal dominant trait.
38
71
|
Kanavakis E...Youroukos S
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14667076
|
2003 |
8 |
Rapid-onset dystonia-parkinsonism in a child with a novel atp1a3 gene mutation.
71
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Anselm IA...Darras BT
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19652145
|
2009 |
9 |
Monocular nystagmus in a patient with alternating hemiplegia of childhood.
38
|
Tello J...Troncoso M
|
31427486
|
2019 |
10 |
Factors in the disease severity of ATP1A3 mutations: Impairment, misfolding, and allele competition.
38
|
Arystarkhova E...Sweadner KJ
|
31425744
|
2019 |
11 |
Revising rapid-onset dystonia-parkinsonism: Broadening indications for ATP1A3 testing.
38
|
Haq IU...Brashear A
|
31361359
|
2019 |
12 |
ATP1A3 mosaicism in families with alternating hemiplegia of childhood.
38
|
Yang X...Zhang Y
|
30891744
|
2019 |
13 |
Physical Therapy for a Patient With Alternating Hemiplegia of Childhood: A Case Report.
38
|
Lardinois KL...Guge N
|
31220019
|
2019 |
14 |
Alternating Hemiplegia of Childhood in a Person of Malay Ethnicity with Diffusion Tensor Imaging Abnormalities.
38
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Tan AH...Lim SY
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31158946
|
2019 |
15 |
Alternating hemiplegia of childhood: the gap between paroxysmal manifestations and non-paroxysmal characteristics.
38
|
Panagiotakaki E
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30548852
|
2019 |
16 |
An Option to Consider for Alternating Hemiplegia of Childhood: Aripiprazole.
38
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Dundar NO...Hasturk MO
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30893129
|
2019 |
17 |
Heart rate variability in a patient with alternating hemiplegia.
38
|
Nakashima T...Hirose S
|
31218164
|
2019 |
18 |
Cognitive, adaptive, and behavioral profiles and management of alternating hemiplegia of childhood.
38
|
Jasien JM...Mikati MA
|
30362107
|
2019 |
19 |
Relapsing encephalopathy with cerebellar ataxia are caused by variants involving p.Arg756 in ATP1A3.
38
|
Sabouraud P...Laugel V
|
30862413
|
2019 |
20 |
Homozygous TANGO2 Single Nucleotide Variants Presenting with Additional Manifestations Resembling Alternating Hemiplegia of Childhood-Expanding the Phenotype of a Recently Reported Condition.
38
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Sen K...Agarwal R
|
30650451
|
2019 |
21 |
A case of early onset life-threatening epilepsy associated with a novel ATP1A3 gene variant.
38
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Ishihara N...Kurahashi H
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30392841
|
2019 |
22 |
Alternating hemiplegia of childhood: First South African case report and verapamil as a possible treatment option.
38
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Van Hillegondsberg LS...Michaelis IA
|
30834869
|
2019 |
23 |
Polysomnography Findings and Sleep Disorders in Children With Alternating Hemiplegia of Childhood.
38
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Kansagra S...Mikati MA
|
30621840
|
2019 |
24 |
A recurrent de novo mutation in ATP1A3 gene in a Mexican patient with alternating hemiplegia of childhood detected by massively parallel sequencing.
38
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Galaz-Montoya CI...Pina-Aguilar RE
|
30657467
|
2019 |
25 |
Fever-related ataxia: a case report of CAPOS syndrome.
38
|
Stenshorne I...Koht J
|
31410291
|
2019 |
26 |
Biallelic loss of function variants in ATP1A2 cause hydrops fetalis, microcephaly, arthrogryposis and extensive cortical malformations.
38
|
Monteiro FP...Kok F
|
30690204
|
2019 |
27 |
A novel ATP1A2 mutation in a patient with hypokalaemic periodic paralysis and CNS symptoms.
38
|
Sampedro Castaneda M...Matthews E
|
30423015
|
2018 |
28 |
Alternating Hemiplegia of Childhood in Two Adult Patients with a Mild Syndrome.
38
|
Polanowska KE...Seniow JB
|
30562231
|
2018 |
29 |
Cell biology and dynamics of Neuronal Na+/K+-ATPase in health and diseases.
38
|
Shrivastava AN...Melki R
|
30550795
|
2018 |
30 |
[Genotype-phenotype correlation in patients with alternating hemiplegia of childhood].
38
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Li SP...Wu XR
|
30392204
|
2018 |
31 |
Benign nocturnal alternating hemiplegia of childhood: A clinical and nomenclatural reappraisal.
38
|
Maas RPPWM...Willemsen MAAP
|
30194039
|
2018 |
32 |
Novel E815K knock-in mouse model of alternating hemiplegia of childhood.
38
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Helseth AR...Mikati MA
|
30071271
|
2018 |
33 |
Early-onset encephalopathy with paroxysmal movement disorders and epileptic seizures without hemiplegic attacks: About three children with novel ATP1A3 mutations.
38
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Marzin P...Doummar D
|
29861155
|
2018 |
34 |
Early Life Epilepsy and Episodic Apnea Revealing an ATP1A3 Mutation: Report of a Pediatric Case and Literature Review.
38
|
Younes TB...Youssef-Turki IB
|
30011403
|
2018 |
35 |
Variants in the ATP1A3 Gene Mutations within Severe Apnea Starting in Early Infancy: An Observational Study of Two Cases with a Possible Relation to Epileptic Activity.
38
|
Holze N...Muhle H
|
29801192
|
2018 |
36 |
De novo ATP1A3 and compound heterozygous NLRP3 mutations in a child with autism spectrum disorder, episodic fatigue and somnolence, and muckle-wells syndrome.
38
|
Torres A...Gonzalez-Heydrich J
|
29922587
|
2018 |
37 |
Childhood Rapid-Onset Ataxia: Expanding the Phenotypic Spectrum of ATP1A3 Mutations.
38
|
Schirinzi T...Capuano A
|
29397530
|
2018 |
38 |
Further characterization of CAPOS/CAOS syndrome with the Glu818Lys mutation in the ATP1A3 gene: A case report.
38
|
Hayashida T...Ohno K
|
29625811
|
2018 |
39 |
Mechanisms of increased hippocampal excitability in the Mashl+/- mouse model of Na+ /K+ -ATPase dysfunction.
38
|
Hunanyan AS...Mikati MA
|
29889309
|
2018 |
40 |
Direct evidence of impaired neuronal Na/K-ATPase pump function in alternating hemiplegia of childhood.
38
|
Simmons CQ...George AL
|
29567111
|
2018 |
41 |
Pearls & Oy-sters: Alternating hemiplegia of childhood mimics focal epilepsy and paroxysmal dyskinesia in infancy.
38
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Dhakar MB...Bamford NS
|
29967203
|
2018 |
42 |
Missense variants in ATP1A3 and FXYD gene family are associated with childhood-onset schizophrenia.
38
|
Chaumette B...Rouleau GA
|
29895895
|
2018 |
43 |
ATP1A3-related epileptic encephalopathy responding to ketogenic diet.
38
|
Schirinzi T...Capuano A
|
29395663
|
2018 |
44 |
Clinical Benefit of NMDA Receptor Antagonists in a Patient With ATP1A2 Gene Mutation.
38
|
Ueda K...Huq AM
|
29610157
|
2018 |
45 |
ATP1A3-related disorders: An update.
38
|
Carecchio M...Nardocci N
|
29291920
|
2018 |
46 |
ATP1A3 spectrum disorders: A video-documented history of 7 genetically confirmed early onset cases.
38
|
Stagnaro M...De Grandis E
|
29396171
|
2018 |
47 |
Recurrent Focal Seizures and Transient Hemiparesis: Think About Alternating Hemiplegia of Childhood.
38
|
Sharawat IK...Saini L
|
29395725
|
2018 |
48 |
Long-term follow up of an adult with alternating hemiplegia of childhood and a p.Gly755Ser mutation in the ATP1A3 gene.
38
|
Ito T...Shiraishi H
|
29269014
|
2018 |
49 |
The CAPOS mutation in ATP1A3 alters Na/K-ATPase function and results in auditory neuropathy which has implications for management.
38
|
Tranebjarg L...Bitner-Glindzicz M
|
29305691
|
2018 |
50 |
Topiramate Therapy in Alternating Hemiplegia of Childhood.
38
|
Kasinathan A...Sankhyan N
|
28502069
|
2017 |