Protocadherin 19

Common Name(s)

Protocadherin 19, PCDH19 female epilepsy, PCDH19 FLE, Early infantile epileptic encephalopathy 9 (EIEE9)

PCDH19 female epilepsy (PCDH19 FLE) is a genetic seizure disorder that occurs almost exclusively in females and is caused by a mutation (change) in the PCDH19 gene. There is a range of symptoms that can occur with PCDH19 female epilepsy; the most common is seizures. Typically, the seizures will begin between 3 months and 3 years of age and occur in clusters that can last days or even weeks. These seizures, which do not respond well to medications, can be triggered by a fever and may be followed by a loss of hearing or skills. Up to 60% of girls with this condition may also have autistic behaviors as well as attention deficit disorder (ADD), attention deficit hyperactivity disorder (ADHD), or obsessive-compulsive disorder (OCD). In addition, approximately 70% of individuals with PCDH19 FLE experience developmental delays. Girls with this condition are often said to have energetic, independent, fearless, and stubborn personalities.

PCDH19 FLE is diagnosed with genetic testing of the PCDH19 gene, which is located on the X chromosome. For reasons that are not fully understood, males with a mutation in this gene do not have symptoms of PCDH19 FLE. Both unaffected males and affected females who have a disease causing mutation in their PCDH19 gene have a 50% risk of passing on the mutation to their children. All females who inherit a mutation in the PCDH19 gene are at risk of having symptoms of PCDH19 FLE. Although there is currently no cure for PCDH19 female epilepsy, there are various resources to help manage the condition and treat the symptoms. Doctors seek support from various therapists and community services to provide care for patients and families affected by PCDH19 FLE. Support groups are also a good resource for additional support and information.

Source: Advocacy organizations associated with the condition.

 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Protocadherin 19" for support, advocacy or research.

PCDH19 Alliance

Our mission is to improve the lives of children and families who are affected by PCDH19 Epilepsy (Girls Clustering Epilepsy). The PCDH19 Alliance focuses on raising and directing funds to scientific research with the goal of finding better, more effective treatments and, ultimately, a cure; providing information and support to affected families; and assisting the efforts of the medical community, so that no family suffers without a diagnosis and the most appropriate medical treatment.

Last Updated: 7 May 2015

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The Cute Syndrome Foundation

The Cute Syndrome is a 501(c)(3) public charity dedicated to funding research for and raising awareness of rare disorders like PCDH19 Epilepsy and SCN8A Epilepsy.

Last Updated: 14 May 2015

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General Support Organizations

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Protocadherin 19" for support, advocacy or research.

PCDH19 Alliance

Our mission is to improve the lives of children and families who are affected by PCDH19 Epilepsy (Girls Clustering Epilepsy). The PCDH19 Alliance focuses on raising and directing funds to scientific research with the goal of finding better, more effective treatments and, ultimately, a cure; providing information and support to affected families; and assisting the efforts of the medical community, so that no family suffers without a diagnosis and the most appropriate medical treatment.

http://www.pcdh19info.org

Last Updated: 7 May 2015

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The Cute Syndrome Foundation

The Cute Syndrome is a 501(c)(3) public charity dedicated to funding research for and raising awareness of rare disorders like PCDH19 Epilepsy and SCN8A Epilepsy.

http://thecutesyndrome.com

Last Updated: 14 May 2015

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General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Protocadherin 19" returned 4 free, full-text research articles on human participants. First 3 results:

A complex of Protocadherin-19 and N-cadherin mediates a novel mechanism of cell adhesion.
 

Author(s): Michelle R Emond, Sayantanee Biswas, Cheasequah J Blevins, James D Jontes

Journal: J. Cell Biol.. 2011 Dec;195(7):1115-21.

 

During embryonic morphogenesis, adhesion molecules are required for selective cell-cell interactions. The classical cadherins mediate homophilic calcium-dependent cell adhesion and are founding members of the large and diverse cadherin superfamily. The protocadherins are the largest ...

Last Updated: 27 Dec 2011

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Acute-onset epilepsy triggered by fever mimicking FIRES (febrile infection-related epilepsy syndrome): the role of protocadherin 19 (PCDH19) gene mutation.
 

Author(s): Nicola Specchio, Lucia Fusco, Federico Vigevano

Journal: Epilepsia. 2011 Nov;52(11):e172-5.

 

To report differences and similarities between febrile infection-related epilepsy syndrome (FIRES) and epilepsy in female patients with protocadherin 19 (PCDH19) mutation. These are two recently described epileptic conditions characterized by drug-resistant epilepsy and cognitive ...

Last Updated: 28 Oct 2011

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Spectrum of phenotypes in female patients with epilepsy due to protocadherin 19 mutations.
 

Author(s): Nicola Specchio, Carla Marini, Alessandra Terracciano, Davide Mei, Marina Trivisano, Federico Sicca, Lucia Fusco, Raffaella Cusmai, Francesca Darra, Bernardo Dalla Bernardina, Enrico Bertini, Renzo Guerrini, Federico Vigevano

Journal: Epilepsia. 2011 Jul;52(7):1251-7.

 

To describe clinical and neuropsychological features of six consecutive sporadic girls with protocadherin 19 (PCDH19) mutations.

Last Updated: 6 Jul 2011

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Protocadherin 19" returned 0 free, full-text review articles on human participants.

 
 
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Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.