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Volumn 26, Issue , 2015, Pages 69-71
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Early-onset movement disorder and epileptic encephalopathy due to de novo dominant SCN8A mutation
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Author keywords
[No Author keywords available]
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Indexed keywords
CARBAMAZEPINE;
CLONAZEPAM;
CLONIDINE;
ETIRACETAM;
GABAPENTIN;
HARKOSERIDE;
PHENOBARBITAL;
PHENYTOIN;
PIRACETAM;
PROPRANOLOL;
SODIUM CHANNEL NAV1.6;
TOPIRAMATE;
VALPROIC ACID;
VIGABATRIN;
SCN8A PROTEIN, HUMAN;
ACUTE ABDOMEN;
APNEA;
ARTICLE;
AUDITORY STIMULATION;
BRAIN FUNCTION;
BRAIN SIZE;
CASE REPORT;
CEREBELLUM;
CLONIC SEIZURE;
DEVELOPMENTAL DISORDER;
DIFFERENTIAL DIAGNOSIS;
ELECTROENCEPHALOGRAM;
EPILEPSY;
EPILEPTIC ENCEPHALOPATHY;
EPILEPTIC STATE;
FEEDING DIFFICULTY;
GASTROSTOMY;
GENE MUTATION;
GESTATIONAL AGE;
HEAD CIRCUMFERENCE;
HUMAN;
HYPEREKPLEXIA;
INTENSIVE CARE UNIT;
KETOGENIC DIET;
MALE;
MOTOR DYSFUNCTION;
MUSCLE HYPERTONIA;
MUSCLE HYPOTONIA;
MYELINATION;
NERVOUSNESS;
NEUROIMAGING;
NEWBORN;
NEWBORN DISEASE;
NEWBORN INTENSIVE CARE;
NEXT GENERATION SEQUENCING;
NUCLEAR MAGNETIC RESONANCE SPECTROSCOPY;
PRIORITY JOURNAL;
STARTLE REFLEX;
TACTILE STIMULATION;
TELEMETRY;
TONIC CLONIC SEIZURE;
VACUUM EXTRACTION;
BRAIN DISEASE;
CAUCASIAN;
GESTATION PERIOD;
HOSPITAL ADMISSION;
HOSPITAL DISCHARGE;
INFANT;
LETTER;
NUCLEAR MAGNETIC RESONANCE IMAGING;
PHENOTYPE;
TONIC SEIZURE;
ELECTROENCEPHALOGRAPHY;
ELECTROMYOGRAPHY;
GENETICS;
MOVEMENT DISORDERS;
SPASMS, INFANTILE;
ELECTROENCEPHALOGRAPHY;
ELECTROMYOGRAPHY;
HUMANS;
INFANT;
MAGNETIC RESONANCE IMAGING;
MALE;
MOVEMENT DISORDERS;
NAV1.6 VOLTAGE-GATED SODIUM CHANNEL;
SPASMS, INFANTILE;
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EID: 84925352294
PISSN: 10591311
EISSN: 15322688
Source Type: Journal
DOI: 10.1016/j.seizure.2015.01.017 Document Type: Article |
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Times cited : (29)
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References (4)
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