Dysfunctional ADAM22 implicated in progressive encephalopathy with cortical atrophy and epilepsy

Neurology: Genetics

Volumn 2, Issue 1, 2016, Pages

  Muona, Mikko ^a,b   Fukata, Yuko ^c,d   Anttonen, Anna Kaisa ^a,b   Laari, Anni ^a,b   Palotie, Aarno ^a,e,f,g,h   Pihko, Helena ^a   Lönnqvist, Tuula ^a   Valanne, Leena ⁱ   Somer, Mirja ^j   Fukata, Masaki ^c,d   Lehesjoki, Anna Elina ^a,b  

^a UNIVERSITY OF HELSINKI   (Finland)

^b FOLKHÄLSAN INSTITUTE OF GENETICS   (Finland)

^c NATIONAL INSTITUTES OF NATURAL SCIENCES   (Japan)

^d GRADUATE UNIVERSITY FOR ADVANCED STUDIES   (Japan)

^e MASSACHUSETTS GENERAL HOSPITAL   (United States)

^f MASSACHUSETTS INSTITUTE OF TECHNOLOGY   (United States)

^g HARVARD MEDICAL SCHOOL   (United States)

^h WELLCOME TRUST SANGER INSTITUTE   (United Kingdom)

ⁱ HOSPITAL DISTRICT OF HELSINKI AND UUSIMAA   (Finland)

^j Vaestoliitto   (Finland)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ADAM22 PROTEIN; DIAZEPAM; PHENOBARBITAL; POSTSYNAPTIC RECEPTOR; PROTEIN; SCAFFOLD PROTEIN; UNCLASSIFIED DRUG; VALPROIC ACID;

ADULT; ARTICLE; BRAIN ATROPHY; CLINICAL ARTICLE; DISEASE COURSE; FRAMESHIFT MUTATION; GENE DELETION; GENE EXPRESSION SYSTEM; GENE SEQUENCE; GENOTYPE; HUMAN; IMMUNOPRECIPITATION; INTELLECTUAL IMPAIRMENT; INTRACTABLE EPILEPSY; MISSENSE MUTATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; TONIC CLONIC SEIZURE;

EID: 84994347221     PISSN: None     EISSN: 23767839     Source Type: Journal    
DOI: 10.1212/NXG.0000000000000046     Document Type: Article

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