Pierre Cacciagli Selected Research

Brain Diseases (Brain Disorder)

1/2018	Abnormal function of the UBA5 protein in a case of early developmental and epileptic encephalopathy with suppression-burst.
4/2016	Early-onset epileptic encephalopathy as the initial clinical presentation of WDR45 deletion in a male patient.
12/2015	Epileptic patients with de novo STXBP1 mutations: Key clinical features based on 24 cases.

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Pierre Cacciagli Research Topics

Disease

3	Brain Diseases (Brain Disorder) 01/2018 - 12/2015
1	Intellectual Disability (Idiocy) 12/2023
1	Epilepsy (Aura) 01/2019
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

Drug/Important Bio-Agent (IBA)

3	Proteins (Proteins, Gene)FDA Link 01/2019 - 03/2014
1	SulfotransferasesIBA 12/2023
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