About 243 results

ALLMedicine™ Alternating Hemiplegia Of Childhood Center

Research & Reviews  95 results

A case report of atypical hemiplegic migraine with nonheadache onset in a Chinese child.
BMC Neurology; Chen H, Sun X et. al.

Jul 8th, 2021 - Hemiplegic migraine (HM) is an uncommon subtype of migraine with aura including motor weakness. The core symptoms of HM are headache and motor weakness. However, we report a rare case of atypical HM with nonheadache onset in a Chinese child who wa...

ATP1A2- and ATP1A3-associated early profound epileptic encephalopathy and polymicrogyria.
Brain : a Journal of Neurology; Vetro A, Nielsen HN et. al.

Apr 22nd, 2021 - Constitutional heterozygous mutations of ATP1A2 and ATP1A3, encoding for two distinct isoforms of the Na+/K+-ATPase (NKA) alpha-subunit, have been associated with familial hemiplegic migraine (ATP1A2), alternating hemiplegia of childhood (ATP1A2/A...

De novo ATP1A2 variants in two Chinese children with alternating hemiplegia of childhoo...
BMC Medical Genomics; Huang D, Liu M et. al.

Apr 3rd, 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...
Human Gene Therapy; Hunanyan AS, Kantor B et. al.

Feb 13th, 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.
Neurology Zagaglia S, Steel D et. al.

Jan 29th, 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 ...

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Clinicaltrials.gov  2 results

Pilot Study, Comparative, Single-center, Randomized, Crossover, Double-blind, Against Placebo, Testing the Effectiveness of Triheptanoin Oil in Alternating Hemiplegia of Childhood

Feb 12th, 2020 - The clinical spectrum of Alternating Hemiplegia of Childhood (AHC) is wide and characterized by the association of permanent and paroxysmal (palsy, dystonia, ocular, epileptic, dysautonomic events) neurological events, with onset in childhood. Mos...

Sodium Oxybate in Patients With Alternating Hemiplegia of Childhood (AHC-SO)

Mar 31st, 2014 - WHO: The investigators are recruiting children and young adults to participate in a research study who: Have been diagnosed with Alternating Hemiplegia of Childhood (AHC) Are between the ages of 6 months - 25 years old Have at least three 10-minut...

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