apnea has been researched along with Hyperekplexia in 2 studies
Apnea: A transient absence of spontaneous respiration.
Hyperekplexia: A neurological disorder characterized by an excessive startle reaction with ABNORMAL REFLEX; MYOCLONIC JERKS; and MUSCLE HYPERTONIA.
| Excerpt | Relevance | Reference |
|---|---|---|
| " During the first months of life, all infants developed progressive encephalopathy, acquired microcephaly, prolonged bouts of apnea, and bradycardia, leading to cardiac arrest and death at a median age of 3." | 4.31 | Clinical and Neurophysiologic Phenotypes in Neonates With ( Angelini, A; Benoit, V; Boniver, C; Carapancea, E; Carkeek, K; Castellotti, B; Ceulemans, B; Cilio, MR; Conti, G; Cornet, MC; D'Onofrio, G; Danhaive, O; De Cosmo, L; De Liso, P; Dilena, R; Fedrigo, M; Granata, T; Guerrini, R; Huang, EJ; Lederer, D; Milh, M; Mitra, N; Morris-Rosendahl, D; Raviglione, F; Raymond, FL; Rowitch, DH; Salpietro, V; Solazzi, R; Stein, A; Striano, P; Vercellino, F; Weckhuysen, S, 2023) |
| "Infants suffering from life-threatening apnea, stridor, cyanosis, and increased muscle tone may often be misdiagnosed with infantile seizures and inappropriately treated because of lack and delay in genetic diagnosis." | 3.91 | Novel mutations in ( Cirak, S; Dafsari, HS; Herkenrath, P; Karakaya, M; Kawalia, A; Malenica, A; Motameny, S; Nürnberg, P; Sprute, R; Thiele, H, 2019) |
| 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 | 1 (50.00) | 24.3611 |
| 2020's | 1 (50.00) | 2.80 |
| Authors | Studies |
|---|---|
| Carapancea, E | 1 |
| Cornet, MC | 1 |
| Milh, M | 1 |
| De Cosmo, L | 1 |
| Huang, EJ | 1 |
| Granata, T | 1 |
| Striano, P | 1 |
| Ceulemans, B | 1 |
| Stein, A | 1 |
| Morris-Rosendahl, D | 1 |
| Conti, G | 1 |
| Mitra, N | 1 |
| Raymond, FL | 1 |
| Rowitch, DH | 1 |
| Solazzi, R | 1 |
| Vercellino, F | 1 |
| De Liso, P | 1 |
| D'Onofrio, G | 1 |
| Boniver, C | 1 |
| Danhaive, O | 1 |
| Carkeek, K | 1 |
| Salpietro, V | 1 |
| Weckhuysen, S | 1 |
| Fedrigo, M | 1 |
| Angelini, A | 1 |
| Castellotti, B | 1 |
| Lederer, D | 1 |
| Benoit, V | 1 |
| Raviglione, F | 1 |
| Guerrini, R | 1 |
| Dilena, R | 1 |
| Cilio, MR | 1 |
| Dafsari, HS | 1 |
| Kawalia, A | 1 |
| Sprute, R | 1 |
| Karakaya, M | 1 |
| Malenica, A | 1 |
| Herkenrath, P | 1 |
| Nürnberg, P | 1 |
| Motameny, S | 1 |
| Thiele, H | 1 |
| Cirak, S | 1 |
2 other studies available for apnea and Hyperekplexia
| Article | Year |
|---|---|
Clinical and Neurophysiologic Phenotypes in Neonates With
Topics: Apnea; Bradycardia; Brain Diseases; Humans; Hyperekplexia; Muscle Hypertonia; Myoclonus; Nuclear Pro | 2023 |
Novel mutations in
Topics: Apnea; Child, Preschool; Exome Sequencing; Glycine Plasma Membrane Transport Proteins; Humans; Hyper | 2019 |