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About 438 results

ALLMedicine™ Alternating Hemiplegia Of Childhood Center

Research & Reviews  219 results

De novo ATP1A2 variants in two Chinese children with alternating hemiplegia of childhoo...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8017680
BMC Medical Genomics; Huang D, Liu M et. al.

Apr 2nd, 2021 - ATP1A2 gene mutation has been indicated to cause alternating hemiplegia of childhood (AHC); however, limited evidence supports this relationship so far. We reported two Chinese patients with de novo ATP1A2 variants (c.970G>A and c.889G>A). Both pa...

Adeno-Associated Virus-Mediated Gene Therapy in the Mashlool, Atp1a3Mashl/+, Mouse Mode...
https://doi.org/10.1089/hum.2020.191
Human Gene Therapy; Hunanyan AS, Kantor B et. al.

Feb 12th, 2021 - Alternating Hemiplegia of Childhood (AHC) is a devastating autosomal dominant disorder caused by ATP1A3 mutations, resulting in severe hemiplegia and dystonia spells, ataxia, debilitating disabilities, and premature death. Here, we determine the e...

RHOBTB2 mutations expand the phenotypic spectrum of alternating hemiplegia of childhood.
https://doi.org/10.1212/WNL.0000000000011543
Neurology Zagaglia S, Steel D et. al.

Jan 28th, 2021 - To explore the phenotypic spectrum of RHOBTB2-related disorders, and specifically to determine whether patients fulfil criteria for alternating hemiplegia of childhood (AHC), we report the clinical features of 11 affected individuals. Individuals ...

Intravenous Immunoglobulin in the Treatment of Alternating Hemiplegia of Childhood.
https://doi.org/10.1097/WNF.0000000000000420
Clinical Neuropharmacology; Samanta D, Ramakrishnaiah R

Nov 12th, 2020 - Alternating hemiplegia of childhood (AHC) is a neurological disorder with early-onset alternating hemiplegia and other paroxysmal events such as epilepsy and dystonia due to de novo pathogenic mutations in the ATP1A3. Physicians and scientists inv...

Characterization of Severe and Extreme Behavioral Problems in Patients With Alternating...
https://doi.org/10.1016/j.pediatrneurol.2020.06.012
Pediatric Neurology; Wallace K, Uchitel J et. al.

Sep 21st, 2020 - Alternating hemiplegia of childhood often manifests severe or extreme behavioral problems, the nature of which remains to be fully characterized. We analyzed 39 consecutive patients with alternating hemiplegia of childhood for occurrence of behavi...

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Clinicaltrials.gov  219 results

De novo ATP1A2 variants in two Chinese children with alternating hemiplegia of childhoo...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8017680
BMC Medical Genomics; Huang D, Liu M et. al.

Apr 2nd, 2021 - ATP1A2 gene mutation has been indicated to cause alternating hemiplegia of childhood (AHC); however, limited evidence supports this relationship so far. We reported two Chinese patients with de novo ATP1A2 variants (c.970G>A and c.889G>A). Both pa...

Adeno-Associated Virus-Mediated Gene Therapy in the Mashlool, Atp1a3Mashl/+, Mouse Mode...
https://doi.org/10.1089/hum.2020.191
Human Gene Therapy; Hunanyan AS, Kantor B et. al.

Feb 12th, 2021 - Alternating Hemiplegia of Childhood (AHC) is a devastating autosomal dominant disorder caused by ATP1A3 mutations, resulting in severe hemiplegia and dystonia spells, ataxia, debilitating disabilities, and premature death. Here, we determine the e...

RHOBTB2 mutations expand the phenotypic spectrum of alternating hemiplegia of childhood.
https://doi.org/10.1212/WNL.0000000000011543
Neurology Zagaglia S, Steel D et. al.

Jan 28th, 2021 - To explore the phenotypic spectrum of RHOBTB2-related disorders, and specifically to determine whether patients fulfil criteria for alternating hemiplegia of childhood (AHC), we report the clinical features of 11 affected individuals. Individuals ...

Intravenous Immunoglobulin in the Treatment of Alternating Hemiplegia of Childhood.
https://doi.org/10.1097/WNF.0000000000000420
Clinical Neuropharmacology; Samanta D, Ramakrishnaiah R

Nov 12th, 2020 - Alternating hemiplegia of childhood (AHC) is a neurological disorder with early-onset alternating hemiplegia and other paroxysmal events such as epilepsy and dystonia due to de novo pathogenic mutations in the ATP1A3. Physicians and scientists inv...

Characterization of Severe and Extreme Behavioral Problems in Patients With Alternating...
https://doi.org/10.1016/j.pediatrneurol.2020.06.012
Pediatric Neurology; Wallace K, Uchitel J et. al.

Sep 21st, 2020 - Alternating hemiplegia of childhood often manifests severe or extreme behavioral problems, the nature of which remains to be fully characterized. We analyzed 39 consecutive patients with alternating hemiplegia of childhood for occurrence of behavi...

see more →