An accurate diagnosis can make a real difference to your patients with Lennox-Gastaut syndrome (LGS) or Dravet syndrome1-3

Patients with LGS or Dravet syndrome may reach adulthood without a specific diagnosis. At any age, an appropriate diagnosis can lead to more targeted care.

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A specific diagnosis can help when setting expectations and planning for future care with patients and caregivers1,2

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Treatment plans and management can be personalized to their particular conditions1,2

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Without a specific diagnosis, it may be more difficult to access tailored treatment1,3

Clinical features of LGS may delay or impede diagnosis

Diagnosing patients with Dravet syndrome can be challenging

Dravet syndrome often goes undiagnosed or can be misdiagnosed

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Despite early presentation, Dravet syndrome may not always be diagnosed, as most patients present as normally developing infants with febrile seizures1,11

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At onset, patients with Dravet syndrome typically have a normal MRI and nonspecific EEG findings1

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Childhood history is not always available in older patients, which can further confound diagnosis1

Though genetic testing is available, the presence of a sodium channel gene mutation is not sufficient for diagnosis, and absence of mutation does not exclude diagnosis1,12

Signs and symptoms may vary over time

IDENTIFYING DRAVET SYNDROME ACROSS AGE GROUPS

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YOUNG CHILDREN

(seizures develop: ≤1 year1,11)

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OLDER CHILDREN AND ADULTS

SEIZURE TRIGGERS

  • Typically hyperthermia1

  • May include flashing lights, visual patterns, bathing, overexertion1

  • Less frequently: hyperthermia1

  • Exacerbated with the use of sodium channel agents1

SEIZURE TYPE

  • Typically present as prolonged generalized or hemiclonic seizures and may include myoclonic seizures in the first 2 years of life1,11

  • After age 2: myoclonic, focal, impaired awareness, and atypical absence seizures; obtundation status1

  • Seizures often evolve into status epilepticus12

  • Persisting seizures: focal and/or generalized convulsive seizures; atypical absences; myoclonic and tonic seizures1

  • Often occur nocturnally11

  • Recurrent status epilepticus and obtundation status may become less frequent/may not occur1

DEVELOPMENT & BEHAVIORAL DISORDERS

  • Normal cognitive development prior to seizure activity; cognitive deficits emerge between 18 months–5 years1,12

  • Moderate to severe intellectual disability; slow language progression during second year of life1,12

  • Behavioral disorders: attention deficits/hyperactivity; oppositional and personality disorders; autistic traits; psychotic features11

  • Sleep disturbances1

MOTOR SYMPTOMS

  • Most patients have normal gait for the first 5 years of life; some begin to develop crouched gait and hypotonia1,13

  • Walking problems, such as crouched gait, ataxia, and balance problems11,13,14

  • Intention tremor14

  • Extrapyramidal rigidity11,14

Not all patients display all symptoms—even some of these characteristics can suggest Dravet syndrome11

The information provided is not intended to supersede independent clinical judgment or institutional protocols.