apnea has been researched along with Myasthenic Syndromes, Congenital in 10 studies
Apnea: A transient absence of spontaneous respiration.
Myasthenic Syndromes, Congenital: A heterogeneous group of disorders characterized by a congenital defect in neuromuscular transmission at the NEUROMUSCULAR JUNCTION. This includes presynaptic, synaptic, and postsynaptic disorders (that are not of autoimmune origin). The majority of these diseases are caused by mutations of various subunits of the nicotinic acetylcholine receptor (RECEPTORS, NICOTINIC) on the postsynaptic surface of the junction. (From Arch Neurol 1999 Feb;56(2):163-7)
| Excerpt | Relevance | Reference |
|---|---|---|
| " Congenital myasthenic syndrome with episodic apnea is a rare cause of recurrent apnea in infancy." | 7.75 | Congenital myasthenic syndrome with episodic apnea. ( Agus, MS; Burgess, SL; Burpee, TM; Darras, BT; Estrella, E; Kang, PB; Kunkel, LM; Mallory, LA; Nurko, S; Shaw, JG, 2009) |
| " Mutations in the choline acetyltransferase (CHAT) gene cause a presynaptic CMS associated with episodic apnea (CMS-EA)." | 7.73 | Clinical variability of CMS-EA (congenital myasthenic syndrome with episodic apnea) due to identical CHAT mutations in two infants. ( Abicht, A; Barisic, N; Gazdik, M; Lah-Tomulic, K; Lochmüller, H; Müller, JS; Paucic-Kirincic, E; Pertl, A; Sertic, J; Zurak, N, 2005) |
| "The syndrome of congenital myasthenia with episodic apnea (CMS-EA) was previously found to be due to mutations in the choline acetyltransferase gene (CHAT)." | 7.72 | Congenital myasthenic syndrome with episodic apnea in patients homozygous for a CHAT missense mutation. ( Kraner, S; Laufenberg, I; Sieb, JP; Steinlein, OK; Strassburg, HM, 2003) |
| " Some congenital myasthenic syndromes can cause sudden infant death syndrome by apnea, but the frequency of this etiology is unknown." | 7.71 | Congenital myasthenic syndrome associated with episodic apnea and sudden infant death. ( Byring, RF; Engel, AG; Gustafsson, B; Hackman, P; Ohno, K; Pihko, H; Shen, XM; Tsujino, A; Udd, B, 2002) |
| " Here we report that mutations in CHAT cause a congenital myasthenic syndrome associated with frequently fatal episodes of apnea (CMS-EA)." | 7.71 | Choline acetyltransferase mutations cause myasthenic syndrome associated with episodic apnea in humans. ( Bajzer, Z; Beyring, R; Brengman, JM; Engel, AG; Harper, CM; Kirkham, FJ; Ohno, K; Robb, S; Tsujino, A; Udd, B, 2001) |
| " CMS due to choline acetyltransferase (CHAT) gene is characterized by episodic apnea." | 4.98 | Clinical and Genetic Features of Congenital Myasthenic Syndromes due to CHAT Mutations: Case Report and Literature Review. ( Arican, P; Cavusoglu, D; Gencpinar, P; Olgac Dundar, N, 2018) |
| " Congenital myasthenic syndrome with episodic apnea is a rare cause of recurrent apnea in infancy." | 3.75 | Congenital myasthenic syndrome with episodic apnea. ( Agus, MS; Burgess, SL; Burpee, TM; Darras, BT; Estrella, E; Kang, PB; Kunkel, LM; Mallory, LA; Nurko, S; Shaw, JG, 2009) |
| " Mutations in the choline acetyltransferase (CHAT) gene cause a presynaptic CMS associated with episodic apnea (CMS-EA)." | 3.73 | Clinical variability of CMS-EA (congenital myasthenic syndrome with episodic apnea) due to identical CHAT mutations in two infants. ( Abicht, A; Barisic, N; Gazdik, M; Lah-Tomulic, K; Lochmüller, H; Müller, JS; Paucic-Kirincic, E; Pertl, A; Sertic, J; Zurak, N, 2005) |
| " Multiple episodes of sudden apnea were reported for all patients." | 3.72 | Congenital myasthenic syndrome due to a novel missense mutation in the gene encoding choline acetyltransferase. ( Abicht, A; Bufler, J; Huebner, A; Krampfl, K; Lochmüller, H; Mildner, G; Mortier, W; Petrova, S; Schara, U; Schmidt, C; Stucka, R; Voss, W, 2003) |
| "The syndrome of congenital myasthenia with episodic apnea (CMS-EA) was previously found to be due to mutations in the choline acetyltransferase gene (CHAT)." | 3.72 | Congenital myasthenic syndrome with episodic apnea in patients homozygous for a CHAT missense mutation. ( Kraner, S; Laufenberg, I; Sieb, JP; Steinlein, OK; Strassburg, HM, 2003) |
| " Some congenital myasthenic syndromes can cause sudden infant death syndrome by apnea, but the frequency of this etiology is unknown." | 3.71 | Congenital myasthenic syndrome associated with episodic apnea and sudden infant death. ( Byring, RF; Engel, AG; Gustafsson, B; Hackman, P; Ohno, K; Pihko, H; Shen, XM; Tsujino, A; Udd, B, 2002) |
| " Here we report that mutations in CHAT cause a congenital myasthenic syndrome associated with frequently fatal episodes of apnea (CMS-EA)." | 3.71 | Choline acetyltransferase mutations cause myasthenic syndrome associated with episodic apnea in humans. ( Bajzer, Z; Beyring, R; Brengman, JM; Engel, AG; Harper, CM; Kirkham, FJ; Ohno, K; Robb, S; Tsujino, A; Udd, B, 2001) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 0 (0.00) | 18.7374 |
| 1990's | 0 (0.00) | 18.2507 |
| 2000's | 8 (80.00) | 29.6817 |
| 2010's | 2 (20.00) | 24.3611 |
| 2020's | 0 (0.00) | 2.80 |
| Authors | Studies |
|---|---|
| Liu, ZM | 1 |
| Fang, F | 1 |
| Ding, CH | 1 |
| Zhang, WH | 1 |
| Deng, J | 1 |
| Chen, CH | 1 |
| Wang, X | 1 |
| Liu, J | 1 |
| Li, Z | 1 |
| Jia, XL | 1 |
| Zeng, JS | 1 |
| Qian, SY | 1 |
| Arican, P | 1 |
| Gencpinar, P | 1 |
| Cavusoglu, D | 1 |
| Olgac Dundar, N | 1 |
| Mallory, LA | 1 |
| Shaw, JG | 1 |
| Burgess, SL | 1 |
| Estrella, E | 1 |
| Nurko, S | 1 |
| Burpee, TM | 1 |
| Agus, MS | 1 |
| Darras, BT | 1 |
| Kunkel, LM | 1 |
| Kang, PB | 1 |
| Byring, RF | 2 |
| Pihko, H | 2 |
| Tsujino, A | 2 |
| Shen, XM | 2 |
| Gustafsson, B | 2 |
| Hackman, P | 2 |
| Ohno, K | 4 |
| Engel, AG | 3 |
| Udd, B | 3 |
| Engel, A | 1 |
| Schmidt, C | 1 |
| Abicht, A | 2 |
| Krampfl, K | 1 |
| Voss, W | 1 |
| Stucka, R | 1 |
| Mildner, G | 1 |
| Petrova, S | 1 |
| Schara, U | 1 |
| Mortier, W | 1 |
| Bufler, J | 1 |
| Huebner, A | 1 |
| Lochmüller, H | 2 |
| Kraner, S | 1 |
| Laufenberg, I | 1 |
| Strassburg, HM | 1 |
| Sieb, JP | 1 |
| Steinlein, OK | 1 |
| Sine, SM | 1 |
| Barisic, N | 1 |
| Müller, JS | 1 |
| Paucic-Kirincic, E | 1 |
| Gazdik, M | 1 |
| Lah-Tomulic, K | 1 |
| Pertl, A | 1 |
| Sertic, J | 1 |
| Zurak, N | 1 |
| Brengman, JM | 1 |
| Harper, CM | 1 |
| Bajzer, Z | 1 |
| Beyring, R | 1 |
| Robb, S | 1 |
| Kirkham, FJ | 1 |
2 reviews available for apnea and Myasthenic Syndromes, Congenital
| Article | Year |
|---|---|
Clinical and Genetic Features of Congenital Myasthenic Syndromes due to CHAT Mutations: Case Report and Literature Review.
Topics: Apnea; Choline O-Acetyltransferase; Diagnosis, Differential; Female; Humans; Infant; Mutation; Myast | 2018 |
Congenital myasthenic syndromes: multiple molecular targets at the neuromuscular junction.
Topics: Animals; Apnea; Choline O-Acetyltransferase; Humans; Kinetics; Muscle Proteins; Mutation; Myasthenic | 2003 |
8 other studies available for apnea and Myasthenic Syndromes, Congenital
| Article | Year |
|---|---|
[Clinical and genetic characteristics of congenital myasthenia syndrome with episodic apnea caused by CHAT gene mutation: a report of 2 cases].
Topics: Apnea; Child; Choline O-Acetyltransferase; Exons; Humans; Mutation; Myasthenic Syndromes, Congenital | 2018 |
Congenital myasthenic syndrome with episodic apnea.
Topics: Amino Acid Sequence; Apnea; Blepharoptosis; Choline O-Acetyltransferase; Cholinesterase Inhibitors; | 2009 |
Congenital myasthenic syndrome associated with episodic apnea and sudden infant death.
Topics: Acetylcholine; Apnea; Child; Choline O-Acetyltransferase; Consanguinity; Electromyography; Electroph | 2002 |
[Respiratory arrests caused by congenital myasthenia gravis syndrome].
Topics: Apnea; Child; Choline O-Acetyltransferase; Cholinesterase Inhibitors; Female; Humans; Mutation; Myas | 2002 |
Congenital myasthenic syndrome due to a novel missense mutation in the gene encoding choline acetyltransferase.
Topics: Adolescent; Apnea; Child; Choline O-Acetyltransferase; DNA Mutational Analysis; Female; Genetic Link | 2003 |
Congenital myasthenic syndrome with episodic apnea in patients homozygous for a CHAT missense mutation.
Topics: Adult; Apnea; Child; Choline O-Acetyltransferase; Consanguinity; Family Health; Female; Homozygote; | 2003 |
Clinical variability of CMS-EA (congenital myasthenic syndrome with episodic apnea) due to identical CHAT mutations in two infants.
Topics: Apnea; Choline O-Acetyltransferase; Croatia; Developmental Disabilities; Female; Humans; Hypoxia, Br | 2005 |
Choline acetyltransferase mutations cause myasthenic syndrome associated with episodic apnea in humans.
Topics: Adult; Amino Acid Sequence; Animals; Apnea; Bungarotoxins; Child; Child, Preschool; Chlorocebus aeth | 2001 |