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UnknownChromosomal Instability Causes Sensitivity to Polyamines and One-Carbon Metabolism.
Not available
S-EPMC10221085 | biostudies-literature
UnknownKnockout of the epilepsy gene Depdc5 in mice causes severe embryonic dysmorphology with hyperactivity of mTORC1 signalling.
Not available
S-EPMC5626732 | biostudies-literature
UnknownGenetics of epilepsy: The testimony of twins in the molecular era.
Not available
S-EPMC4166361 | biostudies-literature
UnknownA variant of KCC2 from patients with febrile seizures impairs neuronal Cl- extrusion and dendritic spine formation.
Not available
S-EPMC4197883 | biostudies-literature
UnknownEpileptic spasms are a feature of DEPDC5 mTORopathy.
Not available
S-EPMC4807908 | biostudies-literature
UnknownFamilial cortical dysplasia type IIA caused by a germline mutation in DEPDC5.
Not available
S-EPMC4435711 | biostudies-literature
UnknownNeuronal sodium-channel alpha1-subunit mutations in generalized epilepsy with febrile seizures plus.
Not available
S-EPMC1275639 | biostudies-literature
UnknownDe novo SCN1A mutations in migrating partial seizures of infancy.
Not available
S-EPMC3140798 | biostudies-literature
UnknownProgressive myoclonus epilepsies-Residual unsolved cases have marked genetic heterogeneity including dolichol-dependent protein glycosylation pathway genes.
Not available
S-EPMC8059372 | biostudies-literature
UnknownA recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy.
Not available
S-EPMC4281260 | biostudies-literature
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