A novel heterozygous ATP1A2 pathogenic variant in a Chinese child with MELAS‐like alternating hemiplegia
Sign Up to like & getrecommendations! Published in 2023 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.2146
Abstract: Pathogenic variants of ATP1A2 (OMIM ID: 182340) are usually associated with familial hemiplegic migraine type 2 (FHM‐2), alternating hemiplegia of childhood (AHC), early infantile epileptic encephalopathy (EIEE), transient cytotoxic edema, and so on. Here, we… read more here.
Keywords: novel heterozygous; alternating hemiplegia; heterozygous atp1a2; melas like ... See more keywords
Diagnosis and Treatment of Alternating Hemiplegia of Childhood
Sign Up to like & getrecommendations! Published in 2017 at "Current Treatment Options in Neurology"
DOI: 10.1007/s11940-017-0444-7
Abstract: Opinion statementThe diagnosis and treatment of patients with Alternating Hemiplegia of Childhood (AHC) and related disorders should be provided by a multidisciplinary team experienced with the spectrum of presentations of this disease, with its related… read more here.
Keywords: diagnosis treatment; treatment; hemiplegia childhood; alternating hemiplegia ... See more keywords
Long-term follow up of an adult with alternating hemiplegia of childhood and a p.Gly755Ser mutation in the ATP1A3 gene
Sign Up to like & getrecommendations! Published in 2018 at "Brain and Development"
DOI: 10.1016/j.braindev.2017.11.007
Abstract: Alternating hemiplegia of childhood (AHC) is a rare neurological disease mainly caused by mutations in the ATP1A3 gene and showing varied clinical severity according to genotype. Patients with a p.Gly755Ser (p.G755S) mutation, one of minor… read more here.
Keywords: hemiplegia childhood; long term; atp1a3 gene; mutation ... See more keywords
Characterization of Severe and Extreme Behavioral Problems in Patients With Alternating Hemiplegia of Childhood.
Sign Up to like & getrecommendations! Published in 2020 at "Pediatric neurology"
DOI: 10.1016/j.pediatrneurol.2020.06.012
Abstract: BACKGROUND Alternating hemiplegia of childhood often manifests severe or extreme behavioral problems, the nature of which remains to be fully characterized. METHODS We analyzed 39 consecutive patients with alternating hemiplegia of childhood for occurrence of… read more here.
Keywords: hemiplegia childhood; severe extreme; behavioral problems; extreme behavioral ... See more keywords
Homozygous TANGO2 Single Nucleotide Variants Presenting with Additional Manifestations Resembling Alternating Hemiplegia of Childhood‐Expanding the Phenotype of a Recently Reported Condition
Sign Up to like & getrecommendations! Published in 2019 at "Neuropediatrics"
DOI: 10.1055/s-0038-1677514
Abstract: Case We report a 15‐year‐old Indian girl born to a consanguineous couple, who presented with epilepsy, developmental delay, neuroregression, and episodes of alternating hemiparesis. In addition, she had one episode of rhabdomyolysis at the age… read more here.
Keywords: nucleotide variants; single nucleotide; hemiplegia childhood; alternating hemiplegia ... See more keywords
Alternating hemiplegia of childhood: a distinct clinical entity and ATP1A3-related disorders: A narrative review
Sign Up to like & getrecommendations! Published in 2022 at "Medicine"
DOI: 10.1097/md.0000000000029413
Abstract: Alternating Hemiplegia of Childhood (AHC) is a rare disorder with onset in the first 18 months of life characterized by stereotyped paroxysmal manifestations of tonic and dystonic attacks, nystagmus with other oculomotor abnormalities, respiratory and… read more here.
Keywords: hemiplegia childhood; atp1a3 related; related disorders; alternating hemiplegia ... See more keywords
Alternating Hemiplegia of Childhood in Two Adult Patients with a Mild Syndrome
Sign Up to like & getrecommendations! Published in 2018 at "Cognitive And Behavioral Neurology"
DOI: 10.1097/wnn.0000000000000178
Abstract: We describe the cognitive-behavioral functioning of two adult patients with a mild form of alternating hemiplegia of childhood (AHC). AHC is a rare, chronic neurodevelopmental syndrome manifesting in infancy or early childhood, with recurrent hemiplegic… read more here.
Keywords: hemiplegia childhood; two adult; adult patients; patients mild ... See more keywords