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.
References
May 1, 1992·Neuron·W Tao, E Lai
Apr 17, 2007·Nature Cell Biology·Tarik RegadNancy Papalopulu
Aug 1, 2007·Neurology·R GuerriniW B Dobyns
May 13, 2008·Epilepsy Research·Karine PoirierNadia Bahi-Buisson
Jun 3, 2008·Movement Disorders : Official Journal of the Movement Disorder Society·Teresa TemudoPatricia Maciel
Jun 24, 2008·American Journal of Human Genetics·Francesca ArianiAlessandra Renieri
Sep 15, 2009·Developmental Medicine and Child Neurology·Michael AbsoudSandeep Jayawant
May 28, 2010·Stem Cells·Marco BrancaccioAntonello Mallamaci
Sep 30, 2010·Neurology·L DeprezP De Jonghe
Mar 29, 2011·Journal of Medical Genetics·Fanny KortümWilliam B Dobyns
Sep 29, 2011·Movement Disorders : Official Journal of the Movement Disorder Society·Aurélie MéneretEmmanuel Roze
Sep 25, 2012·Epilepsia·Renzo Guerrini, Elena Parrini
Oct 1, 2013·Human Genetics·Peter D StensonDavid N Cooper
May 20, 2014·Epilepsia·Laurie E SeltzerAlex R Paciorkowski
Jan 8, 2015·Neuropediatrics·Chiara BertossiStefano Sartori
Citations
Aug 4, 2016·Molecular Cytogenetics·H FryssiraN Chaliasos
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
Jul 1, 2017·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Diana MitterKnut Brockmann
Oct 21, 2017·Brain : a Journal of Neurology·Steffen SyrbeRenzo Guerrini
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
Jan 1, 2020·Molecular Cytogenetics·Xuyun HuChanjuan Hao
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
Jan 26, 2021·Epilepsy & Behavior Reports·Atsuko ArisakaMitsumasa Fukuda
Oct 28, 2020·Journal of Medical Genetics·Angela PeronAglaia Vignoli
May 31, 2016·American Journal of Human Genetics·Marianna MadeoMichael C Kruer
May 1, 2021·International Journal of Molecular Sciences·Carlotta SpagnoliFrancesco Pisani
Aug 28, 2021·Genes·Carlotta SpagnoliFrancesco Pisani