Digenic mutations in severe myoclonic epilepsy of infancy

Epilepsy Research

Volumn 85, Issue 2-3, 2009, Pages 300-304

  Bolszak, Maija ^a,b   Anttonen, Anna Kaisa ^d,e   Komulainen, Tuomas ^a,b   Hinttala, Reetta ^a,b   Pakanen, Salla ^a,b   Sormunen, Raija ^a   Herva, Riitta ^a   Lehesjoki, Anna Elina ^d   Majamaa, Kari ^a,b,c   Rantala, Heikki ^a   Uusimaa, Johanna ^a,b  

^a UNIVERSITY OF OULU   (Finland)

^b OULU UNIVERSITY HOSPITAL   (Finland)

^c UNIVERSITY OF TURKU   (Finland)

^d UNIVERSITY OF HELSINKI   (Finland)

^e HELSINKI UNIVERSITY CENTRAL HOSPITAL   (Finland)

Author keywords

Mitochondria; Mitochondrial polymerase gamma; Severe myoclonic epilepsy of infancy; Sodium channel

Indexed keywords

CARBAMAZEPINE; CLONAZEPAM; DNA DIRECTED DNA POLYMERASE GAMMA; ETIRACETAM; LAMOTRIGINE; NITRAZEPAM; PHENOBARBITAL; PREDNISOLONE; SODIUM CHANNEL; TOPIRAMATE; VALPROIC ACID; VIGABATRIN;

ADOLESCENT; ARTICLE; CASE REPORT; CLINICAL FEATURE; DISEASE EXACERBATION; DISEASE SEVERITY; DISORDERS OF MITOCHONDRIAL FUNCTIONS; DRUG WITHDRAWAL; GENE MUTATION; GENETIC ANALYSIS; HUMAN; LIVER FAILURE; MALE; MUSCLE MITOCHONDRION; MYOCLONUS EPILEPSY; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; TONIC CLONIC SEIZURE;

DNA; DNA, MITOCHONDRIAL; HUMANS; INFANT; MALE; MICROSCOPY, ELECTRON, TRANSMISSION; MITOCHONDRIA; MITOCHONDRIAL DISEASES; MUSCLE, SKELETAL; MUTATION; MYOCLONIC EPILEPSY, JUVENILE; PHENOTYPE; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION;

EID: 67650409980     PISSN: 09201211     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.eplepsyres.2009.03.004     Document Type: Article

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