Poly-Seizure Profile (Multiple Seizure Types) - Myoclonic, Atonic, Generalized Tonic-Clonic, Spasm, Drop, Complex Partial, Absence
Seizures are often refractory to treatment
Seizure onset is in late infancy to early childhood and frequently begins with focal dyscognitive seizures that may initially go unrecognized
Small number of patients do not have seizures
Abnormal EEG most often characterized (continuous spike wave during slow-wave sleep (CSWS) or electrical status epilepticus during slow-wave sleep (ESES))
Developmental Delay
Speech Language Impairment
Features of Autism, abnormal behavior, and/or ADHD
Hypotonia
Cognitive Impairment (Intellectual Disability)
Movement Disorders (Ataxia)
Vision changes (either Strabismus or Cortical Visual Impairment)
GI Issues
Sleep Disturbances
In some patients, Borderline Long QT and/or Autonomic Nervous System abnormalities
For a more detailed report, please follow this link to the NORD report on KCNB1.
Seizures are often refractory to treatment
Seizure onset is in late infancy to early childhood and frequently begins with focal dyscognitive seizures that may initially go unrecognized
Small number of patients do not have seizures
Abnormal EEG most often characterized (continuous spike wave during slow-wave sleep (CSWS) or electrical status epilepticus during slow-wave sleep (ESES))
Developmental Delay
Speech Language Impairment
Features of Autism, abnormal behavior, and/or ADHD
Hypotonia
Cognitive Impairment (Intellectual Disability)
Movement Disorders (Ataxia)
Vision changes (either Strabismus or Cortical Visual Impairment)
GI Issues
Sleep Disturbances
In some patients, Borderline Long QT and/or Autonomic Nervous System abnormalities
For a more detailed report, please follow this link to the NORD report on KCNB1.
Family Registry Information
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A simplified Explanation of the KCNB1 Mutation
