DNM1 encephalopathy

Neurology

Volumn 89, Issue 4, 2017, Pages 385-394

  Von Spiczak, Sarah ^a,b   Helbig, Katherine L ^c   Shinde, Deepali N ^c   Huether, Robert ^d   Pendziwiat, Manuela ^a   Lourenço, Charles ^e   Nunes, Mark E ^f   Sarco, Dean P ^f   Kaplan, Richard A ^f   Dlugos, Dennis J ^g   Kirsch, Heidi ^h   Slavotinek, Anne ⁱ   Cilio, Maria R ^h   Cervenka, Mackenzie C ^j   Cohen, Julie S ^k   McClellan, Rebecca ^k   Fatemi, Ali ^k   Yuen, Amy ^l   Sagawa, Yoshimi ^m   Littlejohn, Rebecca ⁿ   McLean, Scott D ⁿ   Hernandez Hernandez, Laura ^o,p   Maher, Bridget ^o,p   Møller, Rikke S ^q,r   Palmer, Elizabeth ^s,t   Lawson, John A ^s   Campbell, Colleen A ^u,v   Joshi, Charuta N ^w,x   Kolbe, Diana L ^u   Hollingsworth, Georgie ^y   Neubauer, Bernd A ^aa   Muhle, Hiltrud ^a   Stephani, Ulrich ^a   Scheffer, Ingrid E ^y,z   Pena, Sérgio D J ^ab   Sisodiya, Sanjay M ^o,p   Helbig, Ingo ^g   more..

^a UNIVERSITY HOSPITAL SCHLESWIG HOLSTEIN   (Germany)

^b Northern German Epilepsy Center for Children and Adolescents   (Germany)

^c Division of Clinical Genomics   (United States)

^d AMBRY GENETICS   (United States)

^e UNIVERSITY OF SÃO PAULO   (Brazil)

^f KAISER PERMANENTE   (United States)

^g CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^h Department of Neurology and Pediatrics ^*  (United States)

ⁱ UNIVERSITY OF CALIFORNIA   (United States)

^j JOHNS HOPKINS HOSPITAL   (United States)

^k KENNEDY KRIEGER INSTITUTE   (United States)

^l Multicare Tacoma General Hospital   (United States)

^m CHILDREN S HOSPITAL OF PITTSBURGH   (United States)

ⁿ BAYLOR COLLEGE OF MEDICINE   (United States)

^o UNIVERSITY COLLEGE LONDON   (United Kingdom)

^p EPILEPSY SOCIETY   (United Kingdom)

^q DANISH EPILEPSY CENTRE   (Denmark)

^r UNIVERSITY OF SOUTHERN DENMARK   (Denmark)

^s SYDNEY CHILDREN'S HOSPITAL   (Australia)

^t ROYAL NORTH SHORE HOSPITAL   (Australia)

^u Iowa Institute of Human Genetics   (United States)

^v UNIVERSITY OF IOWA   (United States)

^w UNIVERSITY OF IOWA   (United States)

^x Children's Hospital Colorado   (United States)

^y UNIVERSITY OF MELBOURNE   (Australia)

^z FLOREY INSTITUTE OF NEUROSCIENCE AND MENTAL HEALTH   (Australia)

^aa UNIVERSITY HOSPITAL GIESSEN   (Germany)

^ab Laboratório Gene Núcleo de Genética Médica   (Brazil)

more..

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID; CANNABIDIOL; CLOBAZAM; CLONAZEPAM; CORTICOTROPIN; DYNAMIN I; GUANOSINE TRIPHOSPHATASE; LAMOTRIGINE; LEVETIRACETAM; STEROID; TOPIRAMATE; ZONISAMIDE; DNM1L PROTEIN, HUMAN; HOMEODOMAIN PROTEIN; MICROTUBULE ASSOCIATED PROTEIN; MITOCHONDRIAL PROTEIN; SHOX PROTEIN, HUMAN;

ADOLESCENT; ADULT; ARTICLE; BODY DYSMORPHIC DISORDER; BRAIN DISEASE; CHILD; CHOREOATHETOSIS; CLINICAL ARTICLE; CORPUS CALLOSUM; DEVELOPMENTAL DELAY; DRUG RESISTANT EPILEPSY; DYNAMIN 1 RELATED ENCEPHALOPATHY; DYSTONIA; ELECTROENCEPHALOGRAPHY; ENDOCYTOSIS; EPILEPSY; EPILEPTIC DISCHARGE; FEMALE; FOCAL EPILEPSY; GENE MUTATION; GENERALIZED EPILEPSY; GENOTYPE PHENOTYPE CORRELATION; HUMAN; HYPSARRHYTHMIA; INFANTILE SPASM; INTELLECTUAL IMPAIRMENT; KETOGENIC DIET; LENNOX GASTAUT SYNDROME; MALE; MOSAICISM; MUSCLE HYPOTONIA; MYELINATION; MYOCLONUS SEIZURE; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; PERSONAL HYGIENE; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN DOMAIN; SCHOOL CHILD; SEIZURE; SIBLING; SPASTICITY; SPIKE WAVE; SYNAPSE VESICLE; TONIC CLONIC SEIZURE; TONIC SEIZURE; TREATMENT RESPONSE; YOUNG ADULT; COHORT ANALYSIS; DNA MUTATIONAL ANALYSIS; GENETICS; INFANT; METABOLISM; MOLECULAR MODEL; MUTATION;

ADOLESCENT; BRAIN DISEASES; CHILD; CHILD, PRESCHOOL; COHORT STUDIES; DNA MUTATIONAL ANALYSIS; FEMALE; GTP PHOSPHOHYDROLASES; HOMEODOMAIN PROTEINS; HUMANS; INFANT; MALE; MICROTUBULE-ASSOCIATED PROTEINS; MITOCHONDRIAL PROTEINS; MODELS, MOLECULAR; MUTATION; PHENOTYPE; SIBLINGS; SYNAPTIC VESICLES; YOUNG ADULT;

EID: 85025803929     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/WNL.0000000000004152     Document Type: Article

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