The DEPDC5-gene participates in the mTOR-pathway, its mutation initially related to autosomal dominant non-lesional familial focal epilepsy, is currently associated with focal cortical dysplasias (FCD).(2)

OBJECTIVES: To describe two patients with refractory focal epilepsy secondary to DCF due to gene mutations with good response to Ketogenic Therapy (KT).

MATERIAL AND METHODS: Patient#1: Boy, 2 years-old, begins at 2 months with focal motor seizures, compromised consciousness progressing to epileptic spasms.

Electroencephalogram: epileptic encephalopathy and left temporal discharges.

MRI: Left temporal DCF.

Exome-sequencing: heterozygous pathogenic mutation in DEPDC5-gene.

Refractory to drugs and without interdisciplinary consensus for epilepsy surgery, at 18 months she started modified CT (1.5:1) with a 50% reduction in seizures at 2 months and more than 90% at 22 months.

Patient #2: Boy, 4 years*-old, begins at 13 months with focal motor seizures with partial compromise of consciousness.

Electroencephalogram: Right central-parietal dicharges.

MRI: Right postcentral parietal DCF.

No response to first and second-line drugs. Start modified TC (2:1) with a 90% reduction in seizures per month. Epilepsy surgery was scheduled with a good outcome.

Rocio Elizabeth Alamo

MD, Neuropediatric Department

Raul Carrea Institute for Neurological Research-FLENI

Buenos Aires, Argentina

Maria Gala Gonzalez

MD, Neuropediatric Department

Raul Carrea Institute for Neurological Research-FLENI

Buenos Aires, Argentina

Pablo Jorrat

MD, Neuropediatric Department

Raul Carrea Institute for Neurological Research-FLENI

Buenos Aires, Argentina

Cecilia Diez

MD, Neuropediatric Department

Raul Carrea Institute for Neurological Research-FLENI

Buenos Aires, Argentina

Diego Querze

MD, Neuropediatric Department

Raul Carrea Institute for Neurological Research-FLENI

Buenos Aires, Argentina

Maria Mercedes Villanueva

MD, Neuropediatric Department

Raul Carrea Institute for Neurological Research-FLENI

Buenos Aires, Argentina

Hugo Arroyo

MD

Buenos Aires, Argentina

Angeles Schteinschnaider

Head of Neuropediatric Department

Neuropediatric Department

Raul Carrea Institute for Neurological Research-FLENI

Buenos aires, Argentina