DEE Community

Dravet Syndrome is a genetic disorder of Chromosome 2 usually affecting a gene called SCN1A, causing epilepsy and other neurological and developmental problems. Dravet Syndrome accounts for 1% of the epilepsy population.

Tuberous sclerosis complex (TSC) is a genetic disorder that causes tumors to form in many different organs, primarily in the brain, eyes, heart, kidney, skin, and lungs. Despite its complexity, understanding this condition can be a source of hope, strength, and empowerment throughout life’s stages.

CHD2-related neurodevelopmental disorders are a group of seizure disorders that typically present in the first five years of life and may be characterized by refractory or drug-resistant epilepsy, developmental delays, and photosensitivity epilepsy caused by flashing lights. Other symptoms may include intellectual disability, autism spectrum disorders, neuropsychiatric conditions, low muscle tone, and challenging behaviors. The disorder is diagnosed by molecular genetic testing and treated with anti-seizure medication and therapies for autism, intellectual disabilities, and speech delays. The prevalence of CHD2 is unknown but it is thought to be underdiagnosed.

CDKL5 deficiency disorder is a rare developmental epileptic encephalopathy caused by mutations in the CDKL5 gene, and this can manifest in a broad range of clinical symptoms and severity. The hallmarks are early-onset, intractable epilepsy and neurodevelopmental delay impacting cognitive, motor, speech, and visual function. Although rare, the occurrence is believed to be ~1:40,000 -75,000 live births, making it one of the most common forms of genetic epilepsy.

Lennox-Gastaut Syndrome (LGS) is a severe epilepsy syndrome that develops in young children and often leads to lifelong disability.

Nobody is born with LGS. It develops over time. LGS is a rare disease (approximately one person in every 2,000).

SLC13A5 Epilepsy is a newly discovered disorder with many names. First described in July of 2014, SLC13A5 Epilepsy is a neurological disorder associated with the gene SLC13A5. This gene codes for a protein that is responsible for transporting citrate. Mutations in this gene cause epilepsy starting in the first few days of life and developmental problems.

MORE DEE's INCLUDE:

SCN8A

Doose Syndrome

West Syndrome

Ohtahara (EIDEE)

Landau-Kleffner syndrome

Some CDG's

CACNA1A (DEE42)

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