Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: UMLS:C0014547 (
focal epilepsy
)
1,627
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
To assess the pathophysiological complexity of cortical dysplasia-related intractable
focal epilepsy
among surgical candidates, using our data-based EEG classification system, we reviewed preresection scalp awake and sleep EEGs (median, 8) in 46 consecutive patients whose resected pathology disclosed cortical dysplasia. Epileptiform phenomena occurred on at least one EEG in 42 (91%) patients. Twenty-three (50%) of the 46 patients displayed at least one type of independently occurring abnormality (spikes, excess delta, or theta) in each hemisphere. Nineteen of these 23 (83%), thus 41% of all 46 patients, showed independently occurring epileptiform abnormalities (spikes) in each hemisphere, i.e., the multiple independent spike foci phenomenon. In an additional 13 of the 46 (28%) patients, spike foci involving more than one lobe appeared within a single hemisphere. Thus, spike foci involving more than one lobe appeared in 32 of the 46 (70%) patients. Generalized bilaterally synchronous epileptiform features (spike waves, slow spike waves, or fast rhythmic waves) appeared in 10 (22%) of the 46 patients. Two findings suggest more widespread dysfunction among extratemporal patients than temporal patients: (1) a significantly higher number of lobes containing focal interictal epileptiform activity in extra temporal patients (mean = 3.14) than among temporal patients (mean = 2.14) (P = 0.02), (2) a higher percentage of bisynchronous epileptiform abnormalities: 8 of 23 (35%) versus 2 of 23 (9%). Among 34 patients with a Principal Spike
Lobe
(more active spiking over more EEGs), those of 32 (94%) arose from the ultimately resected lobe. Of the 30 patients with scalp-recorded seizures, relationship between seizure origin and ultimately resected lobe were same lobe (16 patients), same and adjacent lobes (12), adjacent lobe only (1), and distant lobe (1). Thus, despite the multifocality of several EEG features, Principal Spike
Lobe
and scalp-recorded seizure origin correlate well with epileptogenesis.
...
PMID:Extent of EEG epileptiform pattern distribution in "focal" cortical dysplasia. 2084 46
This paper documents the case of a female Japanese patient with infantile
focal epilepsy
, which was different from benign infantile seizures, and a family history of infantile convulsion and paroxysmal choreoathetosis. The patient developed partial seizures (e.g., psychomotor arrest) at age 14 months. At the time of onset, interictal electroencephalography (EEG) showed bilateral parietotemporal spikes, but the results of neurologic examination and brain magnetic resonance imaging were normal. Her seizures were well controlled with carbamazepine, and she had a normal developmental outcome. EEG abnormalities, however, persisted for more than 6 years, and the spikes moved transiently to the occipital area and began to resemble the rolandic spikes recognized in benign childhood epilepsy. Her father had paroxysmal kinesigenic dyskinesia, with an onset age of 6 years, and her youngest sister had typical benign infantile seizures. Genetic analysis demonstrated that all affected members had a heterozygous mutation of c.649_650insC in the
proline-rich
transmembrane protein-2 (PRRT2) gene. This case indicates that the phenotypic spectrum of infantile seizures or epilepsy with PRRT2-related pathology may be larger than previously expected, and that genetic investigation of the effect of PRRT2 mutations on idiopathic seizures or epilepsy in childhood may help elucidate the pathological backgrounds of benign childhood epilepsy.
...
PMID:Girl with a PRRT2 mutation and infantile focal epilepsy with bilateral spikes. 2376 7