Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0018991 (hemiplegia)
 3,997 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Epilepsia partialis continua (EPC) is clinically defined as a syndrome of continuous focal jerking of a body part, usually a distal limb, occurring over hours, days, or even years. It is considered the status epilepticus equivalent of simple partial motor seizures. A 48-year-old right-handed man with a history of traumatic intracranial hemorrhage was admitted for right-sided hemiplegia and drowsiness after complex partial status epilepticus. An EEG showed periodic lateralized epileptiform discharges over the left hemisphere. Brain MRI revealed extensive multifocal encephalomalaciac changes in the left temporo-parieto-occpital lobe and both frontal lobes with some hemorrhagic residual change. After administration of a loading dose of intravenous phenytoin, his mental status returned to normal. However, his weakness only partially improved. [(18)F]Fluorodeoxyglucose PET (FDG-PET) demonstrated severe hypometabolism in the left cerebral hemisphere, including the basal ganglia and thalamus, with cerebellar diaschisis. At the 3-month follow-up, he complained of symptoms of alien hand phenomenon. Follow-up MRI revealed more extensive encephalomalaciac changes in previously noted regions with thinning of the posterior end of the body of the corpus callosum. Moreover, FDG-PET demonstrated persistent severe hypometabolism over the left cerebral hemisphere. We suggest that the alien hand phenomenon was a result of thinning of the corpus callosum related to EPC.
 ...
PMID:Alien hand syndrome after epilepsia partialis continua: FDG PET and MRI studies. 2210 67

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.
 ...
PMID:Alternating Hemiplegia and Epilepsia Partialis Continua: A new phenotype for a novel compound TBC1D24 mutation. 2829 32