Article
Selenoprotein biosynthesis defect causes progressive encephalopathy with elevated lactate.
Neurology - 28 Jul 2015
Anttonen Anna-Kaisa, Hilander Taru, Linnankivi Tarja, Isohanni Pirjo, French Rachel L, Liu Yuchen, Simonović Miljan, Söll Dieter, Somer Mirja, Muth-Pawlak Dorota, Corthals Garry L, Laari Anni, Ylikallio Emil, Lähde Marja, Valanne Leena, Lönnqvist Tuula, Pihko Helena, Paetau Anders, Lehesjoki Anna-Elina, Suomalainen Anu, Tyynismaa Henna
Abstract excerpt
OBJECTIVE: We aimed to decipher the molecular genetic basis of disease in a cohort of children with a uniform clinical presentation of neonatal irritability, spastic or dystonic quadriplegia, virtually absent psychomotor development, axonal neuropathy, and elevated blood/CSF lactate. METHODS: We performed whole-exome sequencing of blood DNA from the index patients. Detected compound heterozygous mutations were...
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