×
About 255 results

ALLMedicine™ Alternating Hemiplegia Of Childhood Center

Research & Reviews  99 results

Alternating Hemiplegia of Childhood in a Child Harboring a Novel TBC1D24 Mutation: Case...
https://doi.org/10.1055/s-0041-1739132
Neuropediatrics Cordani R, Pisciotta L et. al.

Dec 2nd, 2021 - Alternating Hemiplegia of Childhood (AHC) is a rare neurological disease characterized by early-onset recurrent paroxysmal events and persistent neurological deficits. TBC1D24 gene variants have been associated with a phenotypic spectrum having ep...

Progression of alternating hemiplegia of childhood-related focal epilepsy to electrical...
https://doi.org/10.1684/epd.2021.1377
Epileptic Disorders : International Epilepsy Journal With... Neupert D, Abbassi P et. al.

Nov 19th, 2021 - Mutations in the ATP1A3 gene (which encodes the main α subunit in neuronal Na+/K+-ATPases) cause various neurological syndromes including alternating hemiplegia of childhood. This rare disorder is characterized by paroxysmal episodes of hemiplegia...

Genetically altered animal models for ATP1A3-related disorders.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8503543
Disease Models & Mechanisms; Ng HWY, Ogbeta JA et. al.

Oct 7th, 2021 - Within the past 20 years, particularly with the advent of exome sequencing technologies, autosomal dominant and de novo mutations in the gene encoding the neurone-specific α3 subunit of the Na+,K+-ATPase (NKA α3) pump, ATP1A3, have been identified...

ATP1A3-Encoded Sodium-Potassium ATPase Subunit Alpha 3 D801N Variant Is Associated With...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8649289
Journal of the American Heart Association; Moya-Mendez ME, Ogbonna C et. al.

Aug 31st, 2021 - Background Pathogenic variation in the ATP1A3-encoded sodium-potassium ATPase, ATP1A3, is responsible for alternating hemiplegia of childhood (AHC). Although these patients experience a high rate of sudden unexpected death in epilepsy, the pathoph...

Variants of ATP1A3 in residue 756 cause a separate phenotype of relapsing encephalopath...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8457706
Molecular Genetics & Genomic Medicine; Biela M, Rydzanicz M et. al.

Aug 4th, 2021 - Variants in ATP1A3 cause well-known phenotypes-alternating hemiplegia of childhood (AHC), rapid-onset dystonia-parkinsonism (RDP), cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss (CAPOS), and severe early infanti...

see more →

Clinicaltrials.gov  3 results

HEmiplegia Arrhythmia Retrospective Trial
https://clinicaltrials.gov/ct2/show/NCT04944927

Jun 30th, 2021 - Alternating Hemiplegia of Childhood (AHC) is a rare and severe disease that is in need of effective, and hopefully even curative, therapies. Afflicted patients suffer from severe paralyzing crises, often excruciatingly painful muscle spasms, sever...

Observe Alternating Hemiplegia of Childhood (OBSERV-AHC) Study
https://clinicaltrials.gov/ct2/show/NCT04020848

Apr 29th, 2021 - Alternating Hemiplegia of Childhood (AHC) is a rare and serious disease that is in need of effective, and hopefully even curative, therapies. Afflicted patients suffer from severe paralyzing crises, often excruciatingly painful muscle spasms, seve...

Natural History Study of ATP1A3-related Disease
https://clinicaltrials.gov/ct2/show/NCT03857607

Feb 11th, 2021 - Alternating hemiplegia of childhood (AHC) is a rare very disabling neurodevelopmental syndrome caused by mutations in the gene ATP1A3. AHC is characterized by paroxysmal events including attacks of hemiplegia (weakness), dystonia (painful stiffeni...

see more →