Page last updated: 2024-10-31

apnea and Hyperekplexia

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.

Research Excerpts

ExcerptRelevanceReference
" 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."4.31Clinical 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."3.91Novel mutations in ( Cirak, S; Dafsari, HS; Herkenrath, P; Karakaya, M; Kawalia, A; Malenica, A; Motameny, S; Nürnberg, P; Sprute, R; Thiele, H, 2019)

Research

Studies (2)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's0 (0.00)18.2507
2000's0 (0.00)29.6817
2010's1 (50.00)24.3611
2020's1 (50.00)2.80

Authors

AuthorsStudies
Carapancea, E1
Cornet, MC1
Milh, M1
De Cosmo, L1
Huang, EJ1
Granata, T1
Striano, P1
Ceulemans, B1
Stein, A1
Morris-Rosendahl, D1
Conti, G1
Mitra, N1
Raymond, FL1
Rowitch, DH1
Solazzi, R1
Vercellino, F1
De Liso, P1
D'Onofrio, G1
Boniver, C1
Danhaive, O1
Carkeek, K1
Salpietro, V1
Weckhuysen, S1
Fedrigo, M1
Angelini, A1
Castellotti, B1
Lederer, D1
Benoit, V1
Raviglione, F1
Guerrini, R1
Dilena, R1
Cilio, MR1
Dafsari, HS1
Kawalia, A1
Sprute, R1
Karakaya, M1
Malenica, A1
Herkenrath, P1
Nürnberg, P1
Motameny, S1
Thiele, H1
Cirak, S1

Other Studies

2 other studies available for apnea and Hyperekplexia

ArticleYear
Clinical and Neurophysiologic Phenotypes in Neonates With
    Neurology, 2023, 03-21, Volume: 100, Issue:12

    Topics: Apnea; Bradycardia; Brain Diseases; Humans; Hyperekplexia; Muscle Hypertonia; Myoclonus; Nuclear Pro

2023
Novel mutations in
    Cold Spring Harbor molecular case studies, 2019, Volume: 5, Issue:6

    Topics: Apnea; Child, Preschool; Exome Sequencing; Glycine Plasma Membrane Transport Proteins; Humans; Hyper

2019