Mutations in the Na+/Citrate Cotransporter NaCT (SLC13A5) in Pediatric Patients with Epilepsy and Developmental Delay

Table 3 Information on seizures in children with SLC13A5 mutations in this study.

Subject	Seizure onset	Seizure types	Current seizure frequency	Most effective medications	Ketogenic diet effects	Seizures worse with fasting
1	First week of life	Complex partial GTC Myoclonic	>100/day	Acetazolamide Carbamazepine Diazepam Felbamate Phenobarbital Phenytoin*	Seizures worse Dystonia worse	Y
2	First week of life	Atonic hemiplegia	0–5/month	Acetazolamide Phenobarbital	NT	N
3	First week of life	Complex partial Focal motor Myoclonic	100 s/day with 3–5 wks seizure-free periods	Diazepam Lamotrigine Phenobarbital Phenytoin	NT	Y
4	First week of life	Complex partial Focal motor Myoclonic Tonic	>50/day	Clobazam Clonazepam Lorazepam Midazolam	Seizures worse	Y
5	First week of life	Focal motor Myoclonic	1/month	Clobazam Clonazepam Lamotrigine	NT	N
6	First week of life	Complex partial GTC	1/month	Acetazolamide Phenytoin	NT	N
7	<1 year old	Absence Complex partial Focal motor GTC Myoclonic	Rare (no specific frequency reported)	Acetazolamide Clonazepam Lamotrigine Valproic acid	No effect reported	N
8	First week of life	Focal motor GTC Myoclonic	1/month to 3/year	Acetazolamide Clonazepam Lamotrigine Valproic acid	NT	N
9	First week of life	Absence Atonic Complex partial Focal motor GTC Infantile spasms Myoclonic Tonic	1/wk	Lamotrigine Oxcarbazepine Topiramate	Seizures worse	N

GTC, generalized tonic clonic; NT, has not been treated with ketogenic diet; Y, yes; N, no.
* Phenytoin improved seizures, but caused myoclonus.

ISSN: 1528-3658