A case of nasu-hakola disease without fractures or consanguinity diagnosed using exome sequencing and treated with sodium valproate

Clinical Psychopharmacology and Neuroscience

Volumn 13, Issue 3, 2015, Pages 324-326

  Yamazaki, Kiyohiro ^a   Yoshino, Yuta ^a   Mori, Yoko ^a   Ochi, Shinichiro ^a   Yoshida, Taku ^a   Ishimaru, Takashi ^a   Ueno, Shu Ichi ^a  

^a EHIME UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

Author keywords

Exome sequencing; Nasu Hakola disease; Sodium valproate; TYROBP (DAP12), TREM2, Frontal lobe symptoms

Indexed keywords

KILLER CELL ACTIVATING RECEPTOR ASSOCIATED PROTEIN; RISPERIDONE; VALPROIC ACID;

ABNORMAL BEHAVIOR; ADULT; ARTICLE; ASSESSMENT OF HUMANS; AUTOSOMAL RECESSIVE DISORDER; BABINSKI REFLEX; BONE CYST; CASE REPORT; CHROMOSOME 19Q; CHROMOSOME DELETION; CHROMOSOME MUTATION; COGNITIVE DEFECT; COMPUTER ASSISTED TOMOGRAPHY; DRUG DOSE INCREASE; DRUG DOSE REDUCTION; EUPHORIA; EXOME SEQUENCING; FRONTAL ASSESSMENT BATTERY SCORE; FRONTAL LOBE; GENETIC ANALYSIS; HOSPITAL ADMISSION; HUMAN; HYPERSALIVATION; MALE; MEMORY DISORDER; MENTAL DISEASE; MINI MENTAL STATE EXAMINATION; NASU HAKOLA DISEASE; NUCLEAR MAGNETIC RESONANCE IMAGING; PARKINSONISM; POSTURAL INSTABILITY; RARE DISEASE; SEQUENCE ANALYSIS; TREATMENT DURATION; UNIVERSITY HOSPITAL;

EID: 84949440621     PISSN: 17381088     EISSN: 20934327     Source Type: Journal    
DOI: 10.9758/cpn.2015.13.3.324     Document Type: Article

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