The hyperkinetic movement disorder of FOXG1-related epileptic-dyskinetic encephalopathy

Developmental Medicine and Child Neurology
Elena CelliniFOXG1 Syndrome Study Group

Abstract

Forkhead Box G1 (FOXG1) syndrome is a developmental encephalopathy characterized by postnatal microcephaly, structural brain abnormalities, facial dysmorphisms, severe delay with absent language, defective social interactions, and epilepsy. Abnormal movements in FOXG1 syndrome have often been mentioned but not characterized. We clinically assessed and analysed video recordings of eight patients with different mutations or copy number variations affecting the FOXG1 gene and describe the peculiar pattern of the associated movement disorder. The age of the patients in the study ranged from 2 to 17 years old (six females, two males). They had severe epilepsy and exhibited a complex motor disorder including various combinations of dyskinetic and hyperkinetic movements featuring dystonia, chorea, and athetosis. The onset of the movement disorder was apparent within the first year of life, reached its maximum expression within months, and then remained stable. A hyperkinetic-dyskinetic movement disorder emerges as a distinctive feature of the FOXG1-related phenotype. FOXG1 syndrome is as an epileptic-dyskinetic encephalopathy whose clinical presentation bears similarities with ARX- and STXBP1-gene related encephalopathies.

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Citations

Nov 1, 2017·Current Neurology and Neuroscience Reports·Miryam Carecchio, Niccolò E Mencacci
Aug 9, 2016·Continuum : Lifelong Learning in Neurology·Manju A Kurian, Russell C Dale
Mar 27, 2019·Movement Disorders : Official Journal of the Movement Disorder Society·Toni S PearsonCarolyn M Sue
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Dec 12, 2018·Neurology. Genetics·Nancy VegasNadia Bahi-Buisson
Aug 11, 2020·Journal of Neural Transmission·José Fidel Baizabal-Carvallo, Francisco Cardoso
Aug 29, 2019·International Journal of Molecular Sciences·Lee-Chin WongWang-Tso Lee
Apr 26, 2019·Annals of Clinical and Translational Neurology·Milka PringsheimKnut Brockmann
Jun 14, 2016·Scandinavian Journal of Child and Adolescent Psychiatry and Psychology·Angela M Reiersen
May 31, 2016·American Journal of Human Genetics·Marianna MadeoMichael C Kruer
May 1, 2021·International Journal of Molecular Sciences·Carlotta SpagnoliFrancesco Pisani

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