Recurrent generalized seizures, visual loss, and palinopsia as phenotypic features of neuronal ceroid lipofuscinosis due to progranulin gene mutation

Epilepsia

Volumn 55, Issue 6, 2014, Pages

  Canafoglia, Laura ^a   Morbin, Michela ^a   Scaioli, Vidmer ^a   Pareyson, Davide ^b   D'Incerti, Ludovico ^a   Fugnanesi, Valeria ^a   Tagliavini, Fabrizio ^a   Berkovic, Samuel F ^c   Franceschetti, Silvana ^a  

^a DEPARTMENT OF NEUROSURGERY   (Italy)

^b Department of Clinical Neurosciences   (Italy)

^c UNIVERSITY OF MELBOURNE   (Australia)

Author keywords

Frontotemporal dementia; Kufs' disease; Palinopsia; Progranulin; Recessive ataxia

Indexed keywords

ETIRACETAM; PHENOBARBITAL; PROGRANULIN; VALPROIC ACID;

ADULT; AFTERIMAGE; ARTICLE; ATAXIA; CASE REPORT; CELL VACUOLE; CEREBELLUM ATROPHY; COGNITIVE DEFECT; DEPRESSION; DRUG SUBSTITUTION; DRUG WITHDRAWAL; ELECTROENCEPHALOGRAPHY; ELECTRON MICROSCOPY; ENDOTHELIUM CELL; EVOKED VISUAL RESPONSE; EXECUTIVE FUNCTION; FINGER DERMATOGLYPHICS; FLUORESCENCE ANGIOGRAPHY; GENE MUTATION; HUMAN; HUMAN TISSUE; LEUKOCYTE; LYSOSOME STORAGE DISEASE; MALE; NEUROIMAGING; NEUROLOGIC EXAMINATION; NEURONAL CEROID LIPOFUSCINOSIS; NEUROPSYCHOLOGICAL TEST; NUCLEAR MAGNETIC RESONANCE IMAGING; OCCIPITAL CORTEX; OPHTHALMOLOGY; OPTIC NERVE DISEASE; OPTIC NERVE PALLOR; OPTICAL COHERENCE TOMOGRAPHY; PALINOPSIA; PHENOTYPE; PIGMENT EPITHELIUM; PIGMENT EPITHELIUM DYSTROPHY; PRIORITY JOURNAL; RETINA DISEASE; RETINA DYSTROPHY; SKIN BIOPSY; SPIKE WAVE; STROBOSCOPY; TONIC CLONIC SEIZURE; VISUAL ACUITY; VISUAL DISORDER; VISUAL IMPAIRMENT; WAVEFORM; YOUNG ADULT;

FRONTOTEMPORAL DEMENTIA; KUFS' DISEASE; PALINOPSIA; PROGRANULIN; RECESSIVE ATAXIA;

ATROPHY; BRAIN; CEREBELLUM; ELECTROENCEPHALOGRAPHY; EVOKED POTENTIALS, VISUAL; HUMANS; INTERCELLULAR SIGNALING PEPTIDES AND PROTEINS; MAGNETIC RESONANCE IMAGING; MALE; MUTATION; NEUROIMAGING; NEURONAL CEROID-LIPOFUSCINOSES; PHENOTYPE; RECURRENCE; RETINAL DISEASES; SEIZURES; SIBLINGS; YOUNG ADULT;

EID: 84902313680     PISSN: 00139580     EISSN: 15281167     Source Type: Journal    
DOI: 10.1111/epi.12632     Document Type: Article

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