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Below is a summary from the consensus about what families should expect
from their doctors treating their loved one with SCN8A, a glossary of terms and phrases,
and resources to help educate, support and connect families, communities, physicians, and researchers.

Building Consensus on SCN8A

Explore essential SCN8A resources including guidelines on what to expect from your SCN8A clinician. This video discusses crucial topics such as effective communication strategies with healthcare providers, the development of comprehensive care plans including seizure action, and adult transition planning. Keep reading to discover additional resources.

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What to Expect from
SCN8A Clinicians

Community Support. and Engagement Opportunities

  • Learn about weekly family meetings with other families and Dr, Michael Hammer, geneticist and SCN8A dad who discovered SCN8A as an epilepsy disorder; simultaneous translations into all languages)
  • Join the public or private (for caregivers only) Facebook group where families discuss their experiences, challenges, and questions; including periodic engagement by Dr. Hammer
  • Read about the Developmental and Epileptic Encephalopathy Project (DEE-P) resources for caregivers of children severely affected by DEEs
  • Find ways you can help accelerate progress toward better answers – volunteer, share your SCN8A story, or help fundraise to support vital research
  • Connect with one of our SCN8A Ambassadors to discuss our challenges and how engage with the community

This table outlines that there was strong agreement from clinicians and families about key areas that doctors should discuss with families at the time of or soon after diagnosis.

Autism Spectrum Disorder: A neurological condition characterized by challenges in social interaction, communication, and repetitive behaviors.

Autonomic Dysfunction: When the autonomic nervous system, which controls bodily functions like heart rate and digestion, doesn’t work correctly.

Behavioral Dysregulation: Difficulty in managing emotional and behavioral responses to situations.

CBD: A chemical compound from the cannabis plant, used for medical purposes without causing a high.

Cognition: Mental processes involved in gaining knowledge and understanding, including thinking, remembering, and problem-solving.

Comorbidity: The presence of two or more medical conditions in a person at the same time.

Consensus: General agreement among a group of people or experts.

Contraindicated: Advised against; a situation where a particular treatment or procedure should not be used because it may be harmful.

Developmental Delay (DD): Slower than normal development in children in skills like walking or talking.

Emotional Dysregulation: Difficulty in controlling or managing emotional responses.

Epilepsy: A neurological disorder marked by recurrent, unprovoked seizures.

Feeding Issues: Problems with eating, which can include difficulty swallowing, eating too little, or refusing foods.

Fine Motor: The use and coordination of small muscles, typically in the hands and fingers, for tasks like writing, buttoning, or picking up small objects.

Gain of Function (GOF): A change in a gene that causes it to become more active or gain a new function.

Gastrointestinal Issues (GI): Problems related to the digestive system, including the stomach and intestines.

Generalized Epilepsy (GE): A type of epilepsy where seizures begin across both sides of the brain.

Gross Motor Skills: Abilities that involve the large muscles of the body, used for activities like walking and jumping.

Hypotonia: Reduced muscle tone, resulting in floppy or weak muscles.

Intellectual Delay (ID): Slower or less complete development of the mind, affecting abilities like learning, reasoning, and problem-solving.

Ketogenic (Keto) Diet: A diet high in fats and low in carbohydrates, often used to help control seizures in epilepsy.

Loss of Function (LOF): A change in a gene that causes it to become less active or lose its normal function.

Movement Disorders: Conditions that cause abnormal voluntary or involuntary movements or reduced movement.

Neuro-developmental Disorder (NDD): A disorder that affects the development of the brain and nervous system, leading to challenges in personal, social, academic, or occupational functioning.

Optimal Treatment: The best possible treatment, taking into account effectiveness, safety, and individual patient needs.

Orthopedic Issues: Problems related to the bones, joints, and muscles.

Phenotype: The observable physical and behavioral traits of a person, determined by both genetic makeup and environmental influences.

Polypharmacy: The use of multiple medications by a patient, often more than medically necessary.

Prognosis: The expected course and outcome of a disease, based on average outcomes.

Pulmonary Issues: Problems related to the lungs and respiratory system.

Resective Surgery: A type of surgery where part of the body, often part of the brain, is removed to treat a condition.

SCN8A: A gene that is important for the function of nerve cells in the brain and can be linked to certain medical conditions when it has a mutation.

Seizure Types: Different kinds of seizures, each with specific characteristics. They include:

  • Absence: Brief, sudden lapses in attention.
  • Focal: Seizures starting in one area of the brain.
  • Generalized: Seizures affecting both sides of the brain.
  • Tonic: Seizures causing muscle stiffness.
  • Tonic-Clonic: Seizures involving muscle stiffness and jerking.
  • Infantile Spasms: Seizures seen in babies, involving sudden, jerking movements.

Seizure Freedom: A state where a person experiences no seizures for a certain period, often due to successful treatment.

SeL(F)IE: Self Limited (Familial) Infantile Epilepsy – an epilepsy phenotype, which may or may not be inherited, that may be severe in infancy but largely resolves.

Sleep Disturbances: Problems related to sleeping, like trouble falling asleep, staying asleep, or abnormal behaviors during sleep.

Sodium Channel: A protein in nerve cells that helps control the flow of sodium ions, important for sending signals in the brain.

SUDEP Risk: The risk of Sudden Unexpected Death in Epilepsy, where a person with epilepsy dies suddenly and unexpectedly.

VNS: Vagus Nerve Stimulation, a treatment involving a device that sends electrical impulses to the brain via the vagus nerve to control seizures.

Planning for the Future

Join weekly Alliance SCN8A Family meetings – connect, learn from Dr. Hammer and other families, and support expanded understanding of how disease affects all our children.

First Symptom
Seizures/Seizures and Developmental Delays occur about the same time (Strong)
Developmental Delay Onset
0 – 6 months (Strong)
EEG
Although initial EEG may be normal, it typically becomes abnormal after epilepsy onset and remains so through the course of epilepsy. (Moderate)
MRI
The initial MRI is frequently normal, but may become abnormal over time (often demonstrating atrophy). (Moderate)
Age of Development Delay Onset
0 – 6 months (Moderate)
Likely Function of Variant
Gain-of-Function (Moderate)
Optimal first-line medications
Oxcarbazepine, Carbamazepine
Medications to be cautious of
Levitracitacitam
Important considerations
Gain-of-function (GOF) variants are more common, so sodium channel blockers are preferred
Levetiracetam may worsen seizures and is generally avoided in patients with GOF variants
Ketogenic diet can be helpful
Rescue Medication
IV phenytoin or phenytoin are recommended for status epilepticus
Comorbidities >50% Estimated Frequency Severity Level Change Over Time
Neurological Level of Consensus Severe Moderate Mild No Impairment Level of Consensus Worsen Stable Mixed Improve Resolve Level of Consensus
Fine Motor Delays Strong Moderate Moderate
Gross Motor Delays
Movement Disorders
Hypotonia Moderate
Cortical Blindness/CVI
Autonomic Dysfunction
Sleep Disturbances
SUDEP Risk
DD/ID/Cognitive
Speech/Communication Delays
Intellectual Disability (ID)
Behavioral Dysregulation
Emotional Dysregulation
Autism Spectrum Disorder (ASD)
Organ Systems
Orthopedic Issues
Gastrointestinal (GI)
Feeding Moderate
Pulmonary
Severe DEE Significant Deterioration Modest Deterioration Limited Change Moderate Improvement Significant Improvement Level of Consensus
Epilepsy
Cognition
Development

– Keep Exploring –

IMPORTANT: While this consensus data provides new and valuable insights about best practices in the diagnosis and treatment of SCN8A, this is not medical advice. It can inform clinicians and caregivers alike in developing optimal treatment plans for each individual.