apnea has been researched along with Mitochondrial Diseases in 3 studies
Apnea: A transient absence of spontaneous respiration.
Mitochondrial Diseases: Diseases caused by abnormal function of the MITOCHONDRIA. They may be caused by mutations, acquired or inherited, in mitochondrial DNA or in nuclear genes that code for mitochondrial components. They may also be the result of acquired mitochondria dysfunction due to adverse effects of drugs, infections, or other environmental causes.
| Excerpt | Relevance | Reference |
|---|---|---|
| " We report on 2 patients with de novo stop-loss frameshift variants in KIF5A resulting in a novel phenotype that includes severe infantile onset myoclonus, hypotonia, optic nerve abnormalities, dysphagia, apnea, and early developmental arrest." | 3.83 | KIF5A mutations cause an infantile onset phenotype including severe myoclonus with evidence of mitochondrial dysfunction. ( Applegate, C; Crawford, TO; Dean, S; Dollar, JD; Duis, J; Hamosh, A; Harper, A; He, W; Stafstrom, CE; Sun, LR; Waberski, MB; Xiao, R, 2016) |
| " A comparison of central nervous system signs in syndromic vs nonsyndromic mitochondrial diseases revealed significant differences in terms of headache, external ocular motility, and apnea (P < 0." | 3.76 | Clinical manifestations in children with mitochondrial diseases. ( Chen, LH; Chi, CS; Lee, HF; Lee, HJ; Tsai, CR, 2010) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 0 (0.00) | 18.7374 |
| 1990's | 0 (0.00) | 18.2507 |
| 2000's | 0 (0.00) | 29.6817 |
| 2010's | 3 (100.00) | 24.3611 |
| 2020's | 0 (0.00) | 2.80 |
| Authors | Studies |
|---|---|
| Ramachandran, S | 1 |
| Alessandri, A | 1 |
| Price, J | 1 |
| Balasubramaniam, S | 1 |
| Duis, J | 1 |
| Dean, S | 1 |
| Applegate, C | 1 |
| Harper, A | 1 |
| Xiao, R | 1 |
| He, W | 1 |
| Dollar, JD | 1 |
| Sun, LR | 1 |
| Waberski, MB | 1 |
| Crawford, TO | 1 |
| Hamosh, A | 1 |
| Stafstrom, CE | 1 |
| Chi, CS | 1 |
| Lee, HF | 1 |
| Tsai, CR | 1 |
| Lee, HJ | 1 |
| Chen, LH | 1 |
3 other studies available for apnea and Mitochondrial Diseases
| Article | Year |
|---|---|
Breath-holding spell and macrocytic anaemia in a toddler.
Topics: Acyl-CoA Dehydrogenase, Long-Chain; Anemia, Macrocytic; Apnea; Child, Preschool; Congenital Bone Mar | 2014 |
KIF5A mutations cause an infantile onset phenotype including severe myoclonus with evidence of mitochondrial dysfunction.
Topics: Apnea; Child, Preschool; Deglutition Disorders; Developmental Disabilities; Fatal Outcome; Female; F | 2016 |
Clinical manifestations in children with mitochondrial diseases.
Topics: Administration, Oral; Adolescent; Apnea; Cardiovascular Diseases; Child; Child, Preschool; Female; G | 2010 |