Orphanet: Diagnostik der fr�hinfantilen epileptischen Enzephalopathie Gene: ARX, CDKL5, KCNQ2, PCDH19, PLCB1, PNKP, SCN1A, SCN2A, SCN8A, SLC25A22, SPTAN1, STXBP1
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Diagnosis of early infantile epileptic encephalopathy (ARX, CDKL5, KCNQ2, PCDH19, PLCB1, PNKP, SCN1A, SCN2A, SCN8A, SLC25A22, SPTAN1, STXBP1 genes)

Despite our efforts to ensure that data is up to date, this activity has not been validated since 22/04/2013
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Last update: April 2013

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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