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Cortical Dysplasia-Focal Epilepsy Syndrome

Also Known As:

PTHSL1; Pitt-Hopkins-Like Syndrome 1

Networked: 5 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Related Diseases

1.	Autistic Disorder (Autism)
2.	Schizophrenia (Dementia Praecox)
3.	Obsessive-Compulsive Disorder (Disorder, Obsessive-Compulsive)
4.	Tourette Syndrome (Tourette's Syndrome)
5.	Pitt-Hopkins syndrome

Experts

1.	Poot, Martin: 2 articles (05/2017 - 02/2015)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Cortical Dysplasia-Focal Epilepsy Syndrome:

1.	Proteins (Proteins, Gene)FDA Link 05/01/2017 - "Intragenic deletions of the contactin-associated protein-like 2 gene (CNTNAP2) have been found in patients with Gilles de la Tourette syndrome, intellectual disability (ID), obsessive compulsive disorder, cortical dysplasia-focal epilepsy syndrome, autism, schizophrenia, Pitt-Hopkins syndrome, stuttering, and attention deficit hyperactivity disorder. " 02/01/2015 - "Based on genomic rearrangements and copy number variations, the contactin-associated protein-like 2 gene (CNTNAP2) has been implicated in neurodevelopmental disorders such as Gilles de la Tourette syndrome, intellectual disability, obsessive compulsive disorder, cortical dysplasia-focal epilepsy syndrome, autism, schizophrenia, Pitt-Hopkins syndrome, and attention deficit hyperactivity disorder. "
2.	Monomeric GTP-Binding ProteinsIBA 01/01/2023 - "Comparative analyses of mouse models for Fragile X syndrome (Fmr1 knockout), cortical dysplasia focal epilepsy syndrome (Cntnap2 knockout), PTEN hamartoma tumor syndrome (Pten haploinsufficiency), ANKS1B syndrome (Anks1b haploinsufficiency), and idiopathic autism (BTBR+) revealed several common altered cellular and molecular pathways at the synapse, including changes in oxidative phosphorylation, and Rho family small GTPase signaling. "
3.	NucleotidesIBA 08/01/2023 - "Single nucleotide and copy number variants in this gene have previously been related to Gilles de la Tourette syndrome, cortical dysplasia-focal epilepsy syndrome, schizophrenia, Pitt-Hopkins syndrome, and autism spectrum, attention deficit hyperactivity, and obsessive compulsive disorders. "

Therapies and Procedures

1.	Transplantation 11/11/2022 - "The transplanted neurons disperse in the ipsi- and contralateral hippocampus of a mouse model of cortical dysplasia-focal epilepsy syndrome and survive for up to 9 months after transplantation. "