Table 3.

Recommended Evaluations Following Initial Diagnosis in Individuals with SLC12A5-EIMFS

System/ConcernEvaluationComment
Constitutional Assess for evidence of failure to thrive.
Eyes Ophthalmologic eval incl assessment of vision
ENT/Mouth Assess hearing.
Gastrointestinal/
Feeding 		Assess swallowing, gastroesophageal reflux, feeding, & nutritional status.Incl assessment by speech & language therapist.
Respiratory Assess respiratory status for evidence of ↑ risk of respiratory infections & aspiration.Preventive measures may be needed (e.g., flu vaccination & prophylactic antibiotics in winter).
Neurologic Neurologic evalIncl EEG & brain MRI.
Musculoskeletal Assessment of tone by pediatric rehab specialist &/or PT
Development Developmental assessmentIncl eval of motor skills, speech/ language, general cognitive, & vocational skills.
Miscellaneous/
Other 		Consultation w/clinical geneticist &/or genetic counselor

PT = physical therapist

From: SLC12A5-Related Epilepsy of Infancy with Migrating Focal Seizures

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