Early myoclonic encephalopathy

Common Name(s)

Early myoclonic encephalopathy

Early infantile epileptic encephalopathy is characterized by onset during the first months of life of erratic refractory seizures, usually myoclonic. The prognosis is poor, and most children with the condition either die within 1 to 2 years after birth or survive in a persistent vegetative state. The EEG pattern often shows a suppression-burst pattern with high-voltage bursts of slow waves mixed with multifocal spikes alternating with isoelectric suppression phases ({2:Molinari et al., 2005}). For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see EIEE1 ({308350}).
 

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Condition Specific Organizations

Following organizations serve the condition "Early myoclonic encephalopathy" for support, advocacy or research.

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Early myoclonic encephalopathy" returned 8 free, full-text research articles on human participants. First 3 results:

A de novo missense mutation of GABRB2 causes early myoclonic encephalopathy.
 

Author(s): Atsushi Ishii, Jing-Qiong Kang, Cara C Schornak, Ciria C Hernandez, Wangzhen Shen, Joseph C Watkins, Robert L Macdonald, Shinichi Hirose

Journal: J. Med. Genet.. 2017 Mar;54(3):202-211.

 

Early myoclonic encephalopathy (EME), a disease with a devastating prognosis, is characterised by neonatal onset of seizures and massive myoclonus accompanied by a continuous suppression-burst EEG pattern. Three genes are associated with EMEs that have metabolic features. Here, we ...

Last Updated: 31 Dec 1969

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Early myoclonic encephalopathy in 9q33-q34 deletion encompassing STXBP1 and SPTAN1.
 

Author(s): Francesco Nicita, Fiorenza Ulgiati, Laura Bernardini, Giacomo Garone, Laura Papetti, Antonio Novelli, Alberto Spalice

Journal: Ann. Hum. Genet.. 2015 May;79(3):209-17.

 

Deletions in the 9q33-q34 region have been reported in patients with early onset epileptic encephalopathy, but a consistent phenotype has yet to emerge. We report on the diagnosis of a de novo 9q33-q34.12 microdeletion of 4 Mb in a 15-month-old girl presenting with severe psychomotor ...

Last Updated: 31 Dec 1969

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Successful treatment of early myoclonic encephalopathy using lidocaine and carbamazepine.
 

Author(s): Kousuke Nakano, Katsuhiro Kobayashi, Satoshi Maniwa, Nobuyuki Kodani, Yoko Ohtsuka

Journal: Epileptic Disord. 2013 Sep;15(3):352-7.

 

We report two female infants with early myoclonic encephalopathy (EME) whose intractable focal seizures were suppressed with lidocaine and carbamazepine (CBZ). Although EME is a form of early-onset epileptic encephalopathy characterised by myoclonus and focal seizures that are highly ...

Last Updated: 31 Dec 1969

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Early myoclonic encephalopathy" returned 1 free, full-text review articles on human participants. First 3 results:

Early-onset epileptic encephalopathies: Ohtahara syndrome and early myoclonic encephalopathy.
 

Author(s): Jules C Beal, Koshi Cherian, Solomon L Moshe

Journal: Pediatr. Neurol.. 2012 Nov;47(5):317-23.

 

Ohtahara syndrome and early myoclonic encephalopathy are the earliest presenting of the epileptic encephalopathies. They are typically distinguished from each other according to specific clinical and etiologic criteria. Nonetheless, considerable overlap exists between the two syndromes ...

Last Updated: 31 Dec 1969

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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Genetics of Severe Early Onset Epilepsies
 

Status: Recruiting

Condition Summary: Epilepsy; Epileptic Encephalopathy; Ohtahara Syndrome; Infantile Spasms; Dravet Syndrome; Malignant Migrating Partial Epilepsy of Infancy; Early Myoclonic Epileptic Encephalopathy; PCDH19-related Epilepsy and Related Conditions

 

Last Updated: 24 Aug 2017

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