Pierre Cacciagli Selected Research

syndromic 5 X-linked Mental retardation

3/2014

AP1S2 is mutated in X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures (Pettigrew syndrome).

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Pierre Cacciagli Research Topics

Disease

5	Brain Diseases (Brain Disorder) 01/2018 - 06/2013
3	Epilepsy (Aura) 01/2019 - 06/2013
2	Seizures (Absence Seizure) 03/2015 - 06/2013
1	Infantile Epileptic-Dyskinetic Encephalopathy 12/2015
1	Craniosynostoses (Craniosynostosis) 01/2015
1	Chromosome 9p Deletion Syndrome 01/2015
1	Autism Spectrum Disorder 08/2014
1	syndromic 5 X-linked Mental retardation 03/2014
1	Epileptic Syndromes 06/2013
1	Intellectual Disability (Idiocy) 06/2013
1	Myoclonic Epilepsies (Myoclonic Encephalopathy) 06/2013

Drug/Important Bio-Agent (IBA)

3	Proteins (Proteins, Gene)FDA Link 01/2019 - 03/2014
3	Pharmaceutical PreparationsIBA 09/2017 - 06/2013
1	Sodium Channel BlockersIBA 01/2019
1	IronIBA 04/2016
1	Qa-SNARE Proteins (Syntaxin)IBA 12/2015
1	Carrier Proteins (Binding Protein)IBA 12/2015
1	Protein Tyrosine PhosphatasesIBA 01/2015
1	CationsIBA 08/2014
1	Amino Acids FDA Link 03/2014
1	Vesicular Transport Adaptor ProteinsIBA 03/2014

Therapy/Procedure

1	Sutures (Suture) 01/2015