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Summary
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 6 EIEE6
DRAVET SYNDROME
607208
OMIM = Online Medalian Inheritance of Men
33069
2q24.3
rare
autosomal dominant
mutation in the SCN1A gene
symptoms
ataxia
blindness, visual loss, visual impairment
cerebral atrophy
developmental delay
encephalopathy
epilepsy
microcephaly (<2 SD for age)
motor retardation
myoclonus
onset, infancy
seizures
seizures, absence
laboratory finding
EEG abnormalities -
no specific laboratory findings (P, S, U ,CSF)
Literature
Cherqui S,Courtoy PJThe renal Fanconi syndrome in cystinosis: pathogenic insights and therapeutic perspectivesNat Rev Nephrol132114-1312017
Seemanova E,Ruediger HW, Dreyer MMorfan: a new syndrome characterized by mental retardation, pre- and postnatal overgrowth, remarkable face and acanthosis nigricans in 5-year-old boyAm J Med Genet454525-5281993
Jun JS,et al.Systemic primary carnitine deficiency with hypoglycemic encephalopathyAnn Pediatr Endocrinol Metab214226-2292016
Simon RHPulmonary Complications of CystinosisJ Pediatr1830S9-S142017
Veys KR,et al.Nephropathic cystinosis: an updateCurr Opin Pediatr292168-1782017
Garg N,et al.MORFAN Syndrome: An Infantile Hypoinsulinemic Hypoketotic Hypoglycemia Due to an AKT2 MutationJ Pediatr1672489-4912015
Amato F,et al.Twelve Novel Mutations in the SLC26A3 Gene in 17 Sporadic Cases of Congenital Chloride DiarrheaJ Pediatr Gastroenterol Nutr65126-302017
Hiscox B,Hu J, Young LCA case of Morfan syndromeCutis953e20-212015