Infantile spasms as an epileptic feature of DEND syndrome associated with an activating mutation in the potassium adenosine triphosphate (ATP) channel, Kir6.2

Journal of Child Neurology

Volumn 22, Issue 9, 2007, Pages 1147-1150

  Bahi Buisson, Nadia ^a,b,c   Eisermann, Monica ^a   Nivot, Sylvie ^d   Bellanné Chantelot, Christine ^e   Dulac, Olivier ^a,b,c   Bach, Nathalie ^d   Plouin, Perrine ^f   Chiron, Catherine ^a,b,c,e   de Lonlay, Pascale ^a  

^a HÔPITAL NECKER ENFANTS MALADES   (France)

^b INSERM   (France)

^c UNIVERSITÉ PARIS DESCARTES   (France)

^d Hôpital de Caen   (France)

^e HÔPITAL SAINT ANTOINE   (France)

^f NONE

Author keywords

ATP sensitive potassium channel; Infantile spasms; Neonatal diabetes

Indexed keywords

CORTICOSTEROID; CORTICOTROPIN; GLUCOSE; INSULIN; INWARDLY RECTIFYING POTASSIUM CHANNEL SUBUNIT KIR6.2; PHENOBARBITAL; PHENYTOIN; STEROID; SULFONYLUREA; TOLBUTAMIDE; VIGABATRIN;

ARTICLE; ASPIRATION PNEUMONIA; BIRTH WEIGHT; CASE REPORT; DEND SYNDROME; DEVELOPMENTAL DISORDER; DISEASE EXACERBATION; DRUG DOSE REDUCTION; DRUG TOLERABILITY; ELECTROENCEPHALOGRAPHY; EPILEPSY; FACE DYSMORPHIA; FATALITY; FEEDING DISORDER; FEMALE; HEAD CIRCUMFERENCE; HEART ARRHYTHMIA; HETEROZYGOTE; HUMAN; HYPERGLYCEMIA; HYPOREFLEXIA; HYPSARRHYTHMIA; INFANT; INFANTILE SPASM; INTRAUTERINE GROWTH RETARDATION; JUVENILE DIABETES MELLITUS; KETOACIDOSIS; MISSENSE MUTATION; MUSCLE HYPOTONIA; MUTATIONAL ANALYSIS; NEUROLOGIC EXAMINATION; POLYDIPSIA; POLYURIA; PRIORITY JOURNAL;

ANTICONVULSANTS; BRAIN CHEMISTRY; BRAIN DISEASES, METABOLIC; DEVELOPMENTAL DISABILITIES; DIABETES MELLITUS, TYPE 1; DNA MUTATIONAL ANALYSIS; ELECTROENCEPHALOGRAPHY; EPILEPSY; FATAL OUTCOME; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; HYPOGLYCEMIC AGENTS; INFANT; MUTATION; PNEUMONIA, ASPIRATION; POTASSIUM CHANNEL BLOCKERS; POTASSIUM CHANNELS, INWARDLY RECTIFYING; SPASMS, INFANTILE; STEROIDS; SULFONYLUREA COMPOUNDS; SYNDROME; TREATMENT OUTCOME;

EID: 34548700630     PISSN: 08830738     EISSN: None     Source Type: Journal    
DOI: 10.1177/0883073807306272     Document Type: Article

References (18)

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