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Table 2 Clinical and genetic characteristics of RAS/MAPK-associated epileptic encephalopathies

From: Epileptic spasms in PPP1CB-associated Noonan-like syndrome: a case report with clinical and therapeutic implications

Clinical manifestation RAS/MAPK-associated genes
Associated syndrome CFC CFC3 Noonan syndrome 3 NSLH2
Reported mutations L485F; L485S; F468S; Q257R; del E11; F595 L; T599R; G534R; D638E; K499 N F53F; Y130N D153V E183A
Age of onset of epileptic encephalopathies Birth to 11y 2 reported patients (1y and15y) 3 m with Myo/11 m with IS 4 m
Seizure type CPS, GTCS or sGTCS, Abs, IS, Tonic spasms, SE GTCS, Abs, CPS IS, Myo IS, Myo
Interictal EEG Hypsarrhythmia (some patients) Focal epileptiform discharges to hypsarrhythmia. Hypsarrhythmia (11 m); asynchronous slow waves with irregular spike-wave or polyspikes with and without waves (6 y). Chaotic, high voltage, polymorphic delta and theta rhythms with superimposed multifocal spikes and wave discharges.
Development delay Severe Severe Severe Moderate to severe
Seizures refractory to AEDs or required multiple AEDs use Yes Yes Yes Yes
Seizure prognosis Difficult to control Difficult to control Controlled with ACTH Favorable to KD
Brain MRI Cortical atrophy, hypoplastic CC Hydrocephalus, cortical atrophy Cortical atrophy, agenesis of the CC Unremarkable
References [15,16,17,18] [15] [18] The present study
  1. CFC Cardiofaciocutaneous syndrome, CFC3 Cardiofaciocutaneous syndrome 3, GTCS generalized tonic-clonic seizure, sGTCS secondarily generalized tonic-clonic seizure, CPS complex partial seizure, Abs absence seizure, Myo myoclonic seizure, status epilepticus, SE, IS infantile spasms, AEDs antiepileptic drugs, ACTH adrenocorticotropic hormone, KD ketogenic diet, MRI magnetic resonance image, CC corpus callosum, m: months, y years