Biomaterial Database

The hyperkinetic movement disorder of FOXG1-related epileptic-dyskinetic encephalopathy. 2016

Elena Cellini, and Aglaia Vignoli, and Tiziana Pisano, and Melania Falchi, and Anna Molinaro, and Patrizia Accorsi, and Alessia Bontacchio, and Lorenzo Pinelli, and Lucio Giordano, and Renzo Guerrini, and

Pediatric Neurology Unit, Children's Hospital A Meyer -University of Florence, Florence, Italy.

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.

UI	MeSH Term	Description	Entries
D008297	Male		Males
D009069	Movement Disorders	Syndromes which feature DYSKINESIAS as a cardinal manifestation of the disease process. Included in this category are degenerative, hereditary, post-infectious, medication-induced, post-inflammatory, and post-traumatic conditions.	Dyskinesia Syndromes,Etat Marbre,Status Marmoratus,Movement Disorder Syndromes,Dyskinesia Syndrome,Movement Disorder,Movement Disorder Syndrome
D009419	Nerve Tissue Proteins		Proteins, Nerve Tissue,Tissue Proteins, Nerve
D002648	Child	A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL.	Children
D002675	Child, Preschool	A child between the ages of 2 and 5.	Children, Preschool,Preschool Child,Preschool Children
D004827	Epilepsy	A disorder characterized by recurrent episodes of paroxysmal brain dysfunction due to a sudden, disorderly, and excessive neuronal discharge. Epilepsy classification systems are generally based upon: (1) clinical features of the seizure episodes (e.g., motor seizure), (2) etiology (e.g., post-traumatic), (3) anatomic site of seizure origin (e.g., frontal lobe seizure), (4) tendency to spread to other structures in the brain, and (5) temporal patterns (e.g., nocturnal epilepsy). (From Adams et al., Principles of Neurology, 6th ed, p313)	Aura,Awakening Epilepsy,Seizure Disorder,Epilepsy, Cryptogenic,Auras,Cryptogenic Epilepsies,Cryptogenic Epilepsy,Epilepsies,Epilepsies, Cryptogenic,Epilepsy, Awakening,Seizure Disorders
D005260	Female		Females
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D006948	Hyperkinesis	Excessive movement of muscles of the body as a whole, which may be associated with organic or psychological disorders.	Hyperactivity, Motor,Hyperkinesia,Hyperkinesia, Generalized,Hyperkinetic Movements,Generalized Hyperkinesia,Generalized Hyperkinesias,Hyperkinesias, Generalized,Hyperkinetic Movement,Motor Hyperactivity,Movement, Hyperkinetic,Movements, Hyperkinetic
D000293	Adolescent	A person 13 to 18 years of age.	Adolescence,Youth,Adolescents,Adolescents, Female,Adolescents, Male,Teenagers,Teens,Adolescent, Female,Adolescent, Male,Female Adolescent,Female Adolescents,Male Adolescent,Male Adolescents,Teen,Teenager,Youths