Orphanet: Diagnostik der infantilen epileptischen Enzephalopathie Gene: ARX, CDKL5, KCNT1, PLCB1, PNKP, SCN8A, SLC25A22, SPTAN1, STXBP1, ST3GAL3
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Diagnosis of infantile epileptic encephalopathy (ARX, CDKL5, KCNT1, PLCB1, PNKP, SCN8A, SLC25A22, SPTAN1, STXBP1, ST3GAL3 genes)

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Last update: September 2017

Responsible of diagnostic test

Purpose(s)

Post-natal diagnosis

Technical procedure(s)

Molecular genetics
Sequence analysis: entire coding region
Sanger sequencing

Additional information

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