Harel-Yoon syndrome (HYS)
Evidence-based neurology checklist on harel-yoon syndrome (hys): Genetics This is caused by mutations of the ATAD3A gene ATAD3A is a mitochondrial AAA + ATPase protein Th transmission is autosomal recessive Neurological features Systemic features Pathological features Prognosis Treatment
Genetics
- This is caused by mutations of the ATAD3A gene
- ATAD3A is a mitochondrial AAA + ATPase protein
- Th transmission is autosomal recessive
Neurological features
Systemic features
Pathological features
Prognosis
Treatment
References
- Hanes I, McMillan HJ, Ito Y, Kernohan KD, Lazier J, Lines MA, Dyment DA. A splice variant in ATAD3A expands the clinical and genetic spectrum of Harel-Yoon syndrome Neurol Genet 2020; 6:e452.
- Peralta S, González-Quintana A, Ybarra M, et al. Novel ATAD3A recessive mutation associated to fatal cerebellar hypoplasia with multiorgan involvement and mitochondrial structural abnormalities. Mol Genet Metab 2019; 128:452-462.
- Harel T, Yoon WH, Garone C, et al. Recurrent de novo and biallelic variation of ATAD3A, encoding a mitochondrial membrane protein, results in distinct neurological syndromes. Am J Hum Genet 2017; 99:831–845.
- Al Madhoun A, Alnaser F, Melhem M, Nizam R, Al-Dabbous T, Al-Mulla F. Ketogenic diet attenuates cerebellar atrophy progression in a subject with a biallelic variant at the ATAD3A locus. Appl Clin Genet 2019; 12:79-86.
- And 0 more. Subscribe to see the full list
Related checklists
- BRAT1 epileptic encephalopathy
- CDKL5 epileptic encephalopathy
- DNM1 epileptic encephalopathy
- Early myoclonic encephalopathy (EME)
- FOXG1 encephalopathy
- GABA transaminase deficiency
- GLUT1 deficiency disease (G1D)
- GMAT deficiency syndrome
- GRIN2B epileptic encephalopathy
- Hemiconvulsion–hemiplegia (HH) syndrome
- KCNT1 epileptic encephalopathy
- PACS2 related epileptic encephalopathy
- PCDH19 related epileptic encephalopathy
- STX1B epileptic encephalopathy
- STXBP1 epileptic encephalopathy
- SYNGAP1 epileptic encephalopathy
