Familial Infantile Myoclonic Epilepsy : Clinical Features in a Large Kindred with Autosomal Recessive Inheritance

• Published in: Epilepsia (Copenhagen) Vol. 42; no. 12; pp. 1541 - 1548
• Main Authors: De Falco, Fabrizio A., Majello, Luigi, Santangelo, Roberto, Stabile, Mariano, Bricarelli, Franca Dagna, Zara, Federico
• Format: Journal Article
• Language: English
• Published: Boston, MA, USA Blackwell Science Inc 01.12.2001; Blackwell
• Subjects: Adult; Biological and medical sciences; Child; Chromosome Aberrations - classification; Chromosome Mapping; Chromosomes, Human, Pair 16 - genetics; Electroencephalography - statistics & numerical data; Epilepsies, Myoclonic - classification; Epilepsies, Myoclonic - diagnosis; Epilepsies, Myoclonic - genetics; Family; Female; Gene Expression - genetics; Genes, Recessive - genetics; Genetics; Headache. Facial pains. Syncopes. Epilepsia. Intracranial hypertension. Brain oedema. Cerebral palsy; Humans; Infancy; Male; Medical sciences; Middle Aged; Myoclonic epilepsy; Nervous system (semeiology, syndromes); Neurology; Nosology; Pedigree; Phenotype; Human; Nervous system diseases; Myoclonus; Family study; Epilepsy; Genotype; Electroencephalography; Juvenile character; Genetic determinism; Cerebral disorder; Genetic disease; Involuntary movement; Electrodiagnosis; Familial disease; Phenotype; Central nervous system disease; Diagnosis; Neurological disorder

Purpose: To describe the clinical features of a large kindred with familial infantile myoclonic epilepsy (FIME) with autosomal recessive inheritance, and to discuss the nosology of the early infantile myoclonic epilepsies (IMEs). Methods: The family descends from the intermarriage of two couples of...