Alternating hemiplegia of childhood (AHC)

Genetics

• This is caused by mutations in the ATP1A3, ADCY5, TBC1D24, and RHOBTB2 genes
• It is however usually a sporadic neurodevelopmental disorder
• The onset is sudden in early age: this is usually <18 months of age

References

1. Heinzen EL, Swoboda KJ, Hitomi Y, et al. De novo mutations in ATP1A3 cause alternating hemiplegia of childhood. Nat Genet 2012; 44:1030-1034.
2. Rosewich H, Thiele H, Ohlenbusch A, et al. Heterozygous de-novo mutations in ATP1A3 in patients with alternating hemiplegia of childhood: a whole-exome sequencing gene-identification study. Lancet Neurol 2012; 11:764-773.
3. Ragona F, Castellotti B, Salis B, et al. Alternating hemiplegia and epilepsia partialis continua: a new phenotype for a novel compound TBC1D24 mutation. Seizure 2017; 47:71-73.
4. Zagaglia S, Steel D, Krithika S, et al. RHOBTB2 mutations expand the phenotypic spectrum of alternating hemiplegia of childhood. Neurology 2021; 96:e1539-e1550. 
5. Sweney MT, Newcomb TM, Swoboda KJ. The expanding spectrum of neurological phenotypes in children with ATP1A3 mutations, alternating hemiplegia of childhood, rapid-onset dystonia-Parkinsonism, CAPOS and beyond. Pediatr Neurol 2014; pii: S0887-8994(14)00589-X.
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