title: Alternating Hemiplegia and Epilepsia Partialis Continua: A new phenotype for a novel compound TBC1D24 mutation.
abstract: Mutations in the TBC1D24 gene (MIM 613577) cause familial infantile myoclonic epilepsy (FIME; 605021) and early infantile epileptic encephalopathy-16 (EIEE16; 615338), both inherited with an autosomal recessive trait. The TBC1D24 gene encodes a member of the TBC family domain proteins, involved in cell signaling and oxidative stress resistance. We studied, by a Next Generation Sequencing (NGS) target re-sequencing gene approach, the DNA of a 5 year-old girl, affected by recurrent attacks of Alternating Hemiplegia (AH) and by recurrent episodes of Epilepsia Partialis Continua (EPC). The NGS study showed the presence of two different heterozygous, probably pathogenic variants in the TBC1D24 gene, inherited in trans from her parents: the c.116C>T (p.Ala39Val) and the c.457G>A (p.Glu153Lys). This study describes for the first time the association between TBC1D24 variants and AH expanding the phenotypic spectrum of TBC1D24-related diseases and suggesting that TBC1D24 molecular analysis should be considered in the diagnostic work up of AH patients. An additional peculiar feature is the association of AH and EPC.
authors.affiliation: Department of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
authors.forename: Francesca
authors.initials: F
authors.lastname: Ragona
authors.affiliation: Unit of Genetics of Neurodegenerative and Metabolic Diseases, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
authors.forename: Barbara
authors.initials: B
authors.lastname: Castellotti
authors.affiliation: Department of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; University of Sassari, Sassari, Italy.
authors.forename: Barbara
authors.initials: B
authors.lastname: Salis
authors.affiliation: Unit of Genetics of Neurodegenerative and Metabolic Diseases, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
authors.forename: Stefania
authors.initials: S
authors.lastname: Magri
authors.affiliation: San Gerardo Hospital, University of Milano-Bicocca, Monza, Italy; Clinical Neurophysiology and Epilepsy Center, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
authors.forename: Jacopo C
authors.initials: JC
authors.lastname: DiFrancesco
authors.affiliation: Department of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
authors.forename: Nardo
authors.initials: N
authors.lastname: Nardocci
authors.affiliation: Clinical Neurophysiology and Epilepsy Center, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
authors.forename: Silvana
authors.initials: S
authors.lastname: Franceschetti
authors.affiliation: Unit of Genetics of Neurodegenerative and Metabolic Diseases, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
authors.forename: Cinzia
authors.initials: C
authors.lastname: Gellera
authors.affiliation: Department of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy. Electronic address: tiziana.granata@istituto-besta.it.
authors.forename: Tiziana
authors.initials: T
authors.lastname: Granata
mesh_terms: D001921:Brain / Q000503:physiopathology; D002352:Carrier Proteins / Q000235:genetics*; D002675:Child, Preschool; D003937:Diagnosis, Differential; D004569:Electroencephalography; D017036:Epilepsia Partialis Continua / Q000235:genetics* / Q000503:physiopathology*; D005260:Female; D020690:GTPase-Activating Proteins; D006429:Hemiplegia / Q000235:genetics* / Q000503:physiopathology*; D059014:High-Throughput Nucleotide Sequencing; D006801:Humans; D008565:Membrane Proteins; D009154:Mutation; D009419:Nerve Tissue Proteins; D010641:Phenotype
chemical_list: D002352:Carrier Proteins; D020690:GTPase-Activating Proteins; D008565:Membrane Proteins; D009419:Nerve Tissue Proteins; C552551:TBC1D24 protein, human
keywords: Alternating Hemiplegia; Epilepsia Partialis Continua; Epilepsy; Next generation sequencing; Plegic attack; TBC1D24 gene