Orphanet: Diagnosi molecolare dell_epilessia mioclonica grave dell_infanzia sindrome di Dravet gene SCN1A

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Molecular diagnosis of severe myoclonic epilepsy of infancy (SCN1A gene)

Despite our efforts to ensure that data is up to date, this activity has not been validated since 17/02/2017
  • Dipartimento di Genetica Molecolare
  • Centro di Genetica Molecolare
  • Istituto Neurologico Mediterraneo - IRCCS Neuromed
  • LocalitÓ Camerelle
  • 86077 POZZILLI (IS)
  • Director of laboratory : Dr Stefano GAMBARDELLA
  • More information
  • Phone : 39 0865 929665
  • Additional Phone : -
  • Fax : 39 0865 927575
  • Website
  • Contact
Last update: February 2017

Responsible of diagnostic test


Post-natal diagnosis

Technical procedure(s)

Molecular genetics
Targeted mutation analysis
NGS sequencing (except WES)

List of diseases and genes

List of diseases tested (1)
List of genes tested (including panels) (1)
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.