Encephalopathy, lethal, due to defective mitochondrial and peroxisomal fission

Common Name(s)

Encephalopathy, lethal, due to defective mitochondrial and peroxisomal fission

Encephalopathy due to defective mitochondrial and peroxisomal fission-1 is characterized by delayed psychomotor development and hypotonia that may lead to death in childhood. Many patients develop refractory seizures, consistent with an epileptic encephalopathy, and thereafter show neurologic decline. The age at onset, features, and severity are variable, and some patients may not have clinical evidence of mitochondrial or peroxisomal dysfunction (summary by {6:Sheffer et al., 2016}; {2:Fahrner et al., 2016}). Genetic Heterogeneity of Encephalopathy Due to Defective Mitochondrial And Peroxisomal Fission See also EMPF2 ({617086}), caused by mutation in the MFF gene ({614785}) on chromosome 2q36.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Encephalopathy, lethal, due to defective mitochondrial and peroxisomal fission" for support, advocacy or research.

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Scientific Literature

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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.