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


METHODS
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.


RESULTS
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.


CONCLUSIONS
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.
Pediatric Neurology Unit, Children's Hospital A Meyer -University of Florence, Florence, Italy.
Elena
E
Cellini
Department of Health Sciences, Epilepsy Center, San Paolo Hospital, University of Milan, Milan, Italy.
Aglaia
A
Vignoli
Pediatric Neurology Unit, Children's Hospital A Meyer -University of Florence, Florence, Italy.
Tiziana
T
Pisano
Pediatric Neurology Unit, Children's Hospital A Meyer -University of Florence, Florence, Italy.
Melania
M
Falchi
School in Reproductive and Developmental Science, University of Trieste and University of Brescia, Brescia, Italy.
Anna
A
Molinaro
Child Neurology and Psychiatry Unit, Spedali Civili, Brescia, Italy.
Patrizia
P
Accorsi
Child Neurology and Psychiatry Unit, Spedali Civili, Brescia, Italy.
Alessia
A
Bontacchio
Neuroradiology Unit, Spedali Civili, Brescia, Italy.
Lorenzo
L
Pinelli
Child Neurology and Psychiatry Unit, Spedali Civili, Brescia, Italy.
Lucio
L
Giordano
Pediatric Neurology Unit, Children's Hospital A Meyer -University of Florence, Florence, Italy.
Renzo
R
Guerrini
D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D004827:Epilepsy / Q000235:genetics*; D005260:Female; D051858:Forkhead Transcription Factors / Q000235:genetics*; D006801:Humans; D006948:Hyperkinesis / Q000235:genetics*; D008297:Male; D009069:Movement Disorders / Q000235:genetics*; D009419:Nerve Tissue Proteins / Q000235:genetics*; D013577:Syndrome
C090173:FOXG1 protein, human; D051858:Forkhead Transcription Factors; D009419:Nerve Tissue Proteins