 |
Research |
Home About Lissencephaly About the LCG Resources Children Contact Us |
|
If you wish to know more about you child's condition you may contact the specialists below. They are both experts in their field and have many years experience between them at diagnosing malformations of the cerebral cortex.
Contact: Dr Daniela Pilz, University Hospital of Wales, Cardiff, Wales.
Dr Pilz has been involved in the Lissencephaly Research Project
in Chicago. After returning from the USA, she continues to be a key link into the US
based project. Dr Pilz is happy deal with any questions, within or outside the UK
and does not charge for answering enquiries. However if you actually want to see her
in Cardiff, then she will need to have a referral (ie from your GP), and if you are UK
residents, your Health Authority carries the cost. If you are from outside the UK,
her hospital can charge your insurance company or charge you privately. They can
provide FISH analysis with the LIS1 specific probe in Cardiff, and mutation analysis of
the DCX gene. She has the support of an excellent paediatric neuroradiologist.
Dr Pilz continues to liaise closely with Dr Dobyns . Dr Pilz is primarily a
geneticist, therefore if you have questions specifically about seizures you should address
them to Prof. Guerrini (see below)
Dr Pilz remains interested in classical lissencephaly (eg ILS), and is now also taking a
keen interest in Polymicrogyria, Microlissencephaly and Baraitser-Winter syndrome.
Dr Daniela Pilz
Institute for Medical Genetics
University Hospital of Wales
Heath Park
Cardiff CF14 4XW
Tel: +44 (0)29 20743922
Fax:+44 (0)29 20747603
Email: daniela.pilz@uhw-tr.wales.nhs.uk
When initially contacting Dr Pilz please include the following details as a MINIMUM:
Your name
Your home address and phone no. (including country of origin)
Your child's name, age and sex
Details about your child including any diagnosis you may have been been given and developmental ability (alertness, mobility, motor skills etc) may be included if known.
Contact: Professor Renzo Guerrini
Prof. Guerrini has been involved in clinical and genetic characterisation of the different forms polymicrogyria. In addition, he has been involved in clinical studies, especially epilepsy and genetic studies of most malformations of the cerebral cortex including classical lissencephaly, heterotopia, hemimegalencephaly and focal cortical dysplasia. Prof Guerrini is available to be contacted by any family that may need support for diagnostic or treatment advice and for genetic testing of lissencephaly (including LIS1, DCX and ARX genes), subcortical band heterotopia and periventricular heterotopia. He does this on a research basis at no charge
Prof. Renzo Guerrini MD
Division of Child Neurology and Psychiatry
University of Pisa & IRCCS Fondazione Stella Maris
via dei Giacinti 2,
56018 Calambrone PISA - ITALY
tel 39 050 886280
fax 39 050 32214
e mail: renzo.guerrini@inpe.unipi.it
The world centre of excellence for Lissencephaly is the Lissencephaly Research Project in Chicago. If you are based in the USA this is the first point of call, however, anybody may contact them for further information regarding the condition.
Recent abstracts from research papers (technical)
GeneClinics
- up to date overview of Lissencephaly and Subcortical Band Heterotopia
(Agyria-Pachygyria-Band Spectrum).
Unfortunately the medical profession use a whole host of specialist medical terms which mean little to most people. Click here for a Glossary covering many words you may come across whilst reading research papers.
Home : About Lissencephaly : About the LCG : Resources : Children : Contact Us
© 2000 The Lissencephaly Contact Group
This page last updated:14/01/03