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| Version | Summary | Created by | Modification | Content Size | Created at | Operation |
|---|---|---|---|---|---|---|
| 1 | Catherine Yang | + 536 word(s) | 536 | 2020-12-15 07:18:17 |
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CHD2 myoclonic encephalopathy is a condition characterized by recurrent seizures (epilepsy), abnormal brain function (encephalopathy), and intellectual disability. Epilepsy begins in childhood, typically between ages 6 months and 4 years. Each individual may experience a variety of seizure types. The most common are myoclonic seizures, which involve involuntary muscle twitches. Other seizure types include sudden episodes of weak muscle tone (atonic seizures); partial or complete loss of consciousness (absence seizures); seizures brought on by high body temperature (febrile seizure); or tonic-clonic seizures, which involve loss of consciousness, muscle rigidity, and convulsions. Some people with CHD2 myoclonic encephalopathy have photosensitive epilepsy, in which seizures are triggered by flashing lights. Some people with CHD2 myoclonic encephalopathy experience a type of seizure called atonic-myoclonic-absence seizure, which begins with a drop of the head, followed by loss of consciousness, then rigid movements of the arms. Epilepsy can worsen, causing prolonged episodes of seizure activity that last several minutes, known as status epilepticus. The seizures associated with CHD2 myoclonic encephalopathy are called refractory because they usually do not respond to therapy with anti-epileptic medications.
References
- Lund C, Brodtkorb E, Øye AM, Røsby O, Selmer KK. CHD2 mutations inLennox-Gastaut syndrome. Epilepsy Behav. 2014 Apr;33:18-21. doi:10.1016/j.yebeh.2014.02.005.
- Suls A, Jaehn JA, Kecskés A, Weber Y, Weckhuysen S, Craiu DC, Siekierska A,Djémié T, Afrikanova T, Gormley P, von Spiczak S, Kluger G, Iliescu CM, Talvik T,Talvik I, Meral C, Caglayan HS, Giraldez BG, Serratosa J, Lemke JR,Hoffman-Zacharska D, Szczepanik E, Barisic N, Komarek V, Hjalgrim H, Møller RS,Linnankivi T, Dimova P, Striano P, Zara F, Marini C, Guerrini R, Depienne C,Baulac S, Kuhlenbäumer G, Crawford AD, Lehesjoki AE, de Witte PA, Palotie A,Lerche H, Esguerra CV, De Jonghe P, Helbig I; EuroEPINOMICS RES Consortium. Denovo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonicepileptic encephalopathy sharing features with Dravet syndrome. Am J Hum Genet.2013 Nov 7;93(5):967-75. doi: 10.1016/j.ajhg.2013.09.017.
- Thomas RH, Zhang LM, Carvill GL, Archer JS, Heavin SB, Mandelstam SA, Craiu D,Berkovic SF, Gill DS, Mefford HC, Scheffer IE; EuroEPINOMICS RES Consortium. CHD2myoclonic encephalopathy is frequently associated with self-induced seizures.Neurology. 2015 Mar 3;84(9):951-8. doi: 10.1212/WNL.0000000000001305.
- Trivisano M, Striano P, Sartorelli J, Giordano L, Traverso M, Accorsi P,Cappelletti S, Claps DJ, Vigevano F, Zara F, Specchio N. CHD2 mutations are arare cause of generalized epilepsy with myoclonic-atonic seizures. EpilepsyBehav. 2015 Oct;51:53-6. doi: 10.1016/j.yebeh.2015.06.029.
