TY  - GEN
AU  - Komulainen-Ebrahim, Jonna
AU  - Kangas, Salla M
AU  - Lopez-Martin, Estrella
AU  - Feyma, Timothy
AU  - Scaglia, Fernando
AU  - Martinez-Delgado, Beatriz
AU  - Kuismin, Outi
AU  - Suo-Palosaari, Maria
AU  - Carr, Lucinda
AU  - Hinttala, Reetta
AU  - Kurian, Manju A
AU  - Uusimaa, Johanna
PY  - 2024
DO  - 10.1002/mdc3.14051
SN  - 2330-1619
UR  - https://hdl.handle.net/20.500.12105/25074
AB  - Background: Genetic syndromes of hyperkinetic movement disorders associated with epileptic encephalopathy and intellectual disability are becoming increasingly recognized. Recently, a de novo heterozygous NACC1 (nucleus accumbens-associated 1)...
LA  - eng
PB  - Wiley
KW  - NACC1
KW  - Cyclic
KW  - Hyperkinetic
KW  - Movement disorder
KW  - Child
KW  - Female
KW  - Humans
KW  - Hyperkinesis
KW  - Male
KW  - Mitochondria
KW  - Mutation, Missense
KW  - Oxidative Phosphorylation
KW  - Repressor Proteins
TI  - Hyperkinetic Movement Disorder Caused by the Recurrent c.892C>T NACC1 Variant
TY  - research article
ER  -