Global Variome shared LOVD

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Phenotype #0000243560 Individual ID 00325074 Associated disease ? Diagnosis/Initial - Diagnosis/Definite NEDCAS Phenotype details 13y-decline in scholar performance (impairments in memory and attention); 14y-tonic-clonic seizure (further seizures characterized by staring spells and palpebral myoclonus); mild daily fluctuating ataxia, distal tremor, bradylalia, borderline intellectual functioning (IQ 73 Wechsler scale); EEG diffuse sharp-and-wave complexes; MRI and MR Spectroscopy (MRS) shrunken cerebellum with reduction of the N-acetyl aspartate peak, without progression over time; antiepileptic drugs (including valproic acid, levetiracetam and lamotrigine) ineffective in complete control seizures; stable clinical course; double-membrane bound granular and osmiophilic inclusions cytoplasm dermal fibroblasts and myelinated fibers on skin biopsy Inheritance Isolated (sporadic) Age/Examination 18y (18 years) Age/Diagnosis 16y Age/Onset 13y Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Sara Nuovo Database submission license No license selected Created by Sara Nuovo Date created 2020-12-29 17:17:16 +01:00 (CET) Date last edited 2020-12-29 19:03:03 +01:00 (CET)

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