Table 3. Clinical Utility of Genetic Diagnoses for Individuals With Pediatric-Onset Epilepsya.
| Gene | Actions | Epilepsy type |
|---|---|---|
| Change in treatment and management | ||
| ANKRD11 | Referred to cardiovascular genetics, who recommended ECHO with follow-up in 1 y | DEE |
| Referred to audiology for hearing evaluation | ||
| Referred to endocrinology for short stature and bone mineralization seen in KBG syndrome | ||
| Referred to orthopedic surgery for evaluation for potential vertebral abnormalities and scoliosis | ||
| ARID1B | Referred for renal ultrasound and hypothyroidism screening | NAFE |
| Referred for evaluation for ASD | ||
| BCL11A | Referred to hematology for blood smear to assess for possible BCL11A-associated bone marrow abnormalities | GGE |
| BRAF | Referred to cardiology for evaluation due to high rate of cardiac abnormalities associated with BRAF | DEE |
| CREBBP | Recommended screening for cataracts, kidney, and thyroid abnormalities | DEE |
| CSNK2A1, CSNK2B | Referred to cardiology for baseline evaluation | DEE |
| DEPDC5 | Referred for epilepsy surgical evaluation due to high success rate with focal epilepsy in the setting of mTORopathies | NAFE |
| Counseled regarding increased risk for SUDEP and discussed monitoring devices | ||
| KCNMA1 | Monitoring for symptoms of movement disorders (paroxysmal dyskinesia and ataxia) | Combined |
| MECP2 | Annual EKG to evaluate for long QT | NAFE |
| Regular spine examinations for scoliosis | ||
| Monitoring for GERD, constipation, signs and symptoms of gallstones | ||
| Regular cholesterol screening | ||
| NPRL2 | Referred for epilepsy surgical evaluation due to high success rate with focal epilepsy in the setting of mTORopathies | NAFE |
| PGAP2 | Discussed reports of patients who benefit with vitamin B6 and recommended to monitoring for worsening symptoms if vitamin B6 were discontinued; referred to cardiology for EKG | DEE |
| Referred to endocrinology | ||
| SCN1A | Started cannabidiol and fenfluramine | DEE |
| Recommended temperature management (eg, cooling vest when playing outside) | ||
| Counseled regarding increased risk for SUDEP; family obtained a monitor for sleeping | ||
| SCN1B | Referred to cardiology for evaluation for arrhythmias (due to prior association with Brugada syndrome) | NAFE |
| SHANK3 | Referred to cardiology for baseline evaluation | DEE |
| Referred to nephrology for baseline evaluation | ||
| Recommended routine ophthalmology evaluations | ||
| SLC6A1 | Discussion of medications reported effective in this condition for seizures (ie, valproic acid) | GGE |
| TCF4 | Discussion of medications reported effective in this condition for seizures (ie, lamotrigine). | DEE |
| TRIT1 | Discussion of treatments reported effective in this condition for seizures (ie, ketogenic diet) | DEE |
| Referred to cardiology for evaluation. | ||
| Change in prognosis | ||
| CLN8 | Provided diagnosis and counseling regarding the presence of a neurodegenerative disorder. | DEE |
| PPP2R5D | Patient is substantially delayed and not yet walking; counseled that individuals with this diagnosis can develop skills much later than typical | NAFE |
| PRRT2 | Change in prognosis: confidence regarding weaning seizure medication and anticipatory guidance regarding possible movement disorder | NAFE |
| Explains family history of paroxysmal kinesigenic dyskinesia that was previously undiagnosed/unexplained | ||
Abbreviations: ASD, autism spectrum disorder; DEE, developmental and epileptic encephalopathy; ECHO, echocardiography; EKG, electrocardiography; GGE, genetic generalized epilepsy; GERD, gastroesophageal reflux disease; NAFE, nonacquired focal epilepsy; SUDEP, sudden unexpected death in epilepsy.
a
Includes only patients for whom such discussion is explicitly documented.