A novel de novo dominant negative mutation in DNM1L impairs mitochondrial fission and presents as childhood epileptic encephalopathy

American Journal of Medical Genetics, Part A

Volumn 170, Issue 8, 2016, Pages 2002-2011

  Fahrner, Jill A ^a   Liu, Raymond ^b   Perry, Michael Scott ^c   Klein, Jessica ^a,d   Chan, David C ^b  

^a JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b California Institute of Technology   (United States)

^c Risk Evaluation to Achieve Cardiovascular Health   (United States)

^d MEDICAL UNIVERSITY OF SOUTH CAROLINA   (United States)

Author keywords

developmental regression; DLP1; DNM1L; DRP1; epileptic encephalopathy; fission; mitochondria; seizures

Indexed keywords

ANTICONVULSIVE AGENT; CLONAZEPAM; DYNAMIN; DYNAMIN RELATED PROTEIN 1; ETIRACETAM; GLUTAMIC ACID; GLUTAMINE; HARKOSERIDE; IMMUNOGLOBULIN; N ACETYLASPARTIC ACID; PENTOBARBITAL; PHENYTOIN; STEROID; UNCLASSIFIED DRUG; DNM1L PROTEIN, HUMAN; GUANOSINE TRIPHOSPHATASE; MICROTUBULE ASSOCIATED PROTEIN; MITOCHONDRIAL PROTEIN; PROTEIN BINDING;

AGGRESSION; ANIMAL CELL; ARTICLE; ATTENTION DISTURBANCE; BRAIN ATROPHY; CASE REPORT; CHILD; CLONUS; CONTROLLED STUDY; DNM1L GENE; DRUG DOSE TITRATION; DYSARTHRIA; DYSPHASIA; EPILEPTIC DISCHARGE; EPILEPTIC STATE; FRONTAL LOBE; GENETIC PROCEDURES; HETEROZYGOSITY; HIPPOCAMPUS; HUMAN; HYPERREFLEXIA; KETOGENIC DIET; LEFT HEMISPHERE; LENNOX GASTAUT SYNDROME; MALE; MISSENSE MUTATION; MITOCHONDRIAL DYNAMICS; MITOCHONDRIAL FISSION; MUSCLE HYPERTONIA; MYOCLONUS; NONHUMAN; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEAR MAGNETIC RESONANCE SPECTROSCOPY; OLIGOMERIZATION; PLASMAPHERESIS; PRESCHOOL CHILD; PRIORITY JOURNAL; PUTAMEN; RIGHT HEMISPHERE; SCHOOL CHILD; THALAMUS; WHOLE EXOME SEQUENCING; ABNORMALITIES; AGE; ANIMAL; BRAIN; BRAIN DISEASES; CELL LINE; CHEMISTRY; DOMINANT GENE; EPILEPSY; EXOME; GENE EXPRESSION; GENETIC ASSOCIATION STUDY; GENETICS; HIGH THROUGHPUT SEQUENCING; METABOLISM; MITOCHONDRION; MOUSE; MUTATION; PHENOTYPE; PROTEIN TRANSPORT;

AGE FACTORS; ANIMALS; BRAIN; BRAIN DISEASES; CELL LINE; CHILD, PRESCHOOL; EPILEPSY; EXOME; GENE EXPRESSION; GENES, DOMINANT; GENETIC ASSOCIATION STUDIES; GTP PHOSPHOHYDROLASES; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; MICE; MICROTUBULE-ASSOCIATED PROTEINS; MITOCHONDRIA; MITOCHONDRIAL DYNAMICS; MITOCHONDRIAL PROTEINS; MUTATION; MUTATION, MISSENSE; PHENOTYPE; PROTEIN BINDING; PROTEIN TRANSPORT;

EID: 84964727235     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.37721     Document Type: Article

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