ABSTRACT
The paper gives current data on the genetic aspects of different epileptic syndromes. The data available in the world literature on clinicogenealogic, twin, and molecular genetic studies is summarized. New prospects in studying the genetics of epilepsies and epileptic syndromes are defined.
Subject(s)
Epilepsy/genetics , Genetics, Medical/methods , Epilepsy/classification , Epilepsy/prevention & control , Humans , SyndromeSubject(s)
Epilepsies, Myoclonic/diagnosis , Anticonvulsants/therapeutic use , Atrophy/complications , Atrophy/diagnosis , Brain/pathology , Child , Child, Preschool , Electroencephalography , Epilepsies, Myoclonic/drug therapy , Epilepsies, Myoclonic/etiology , Female , Humans , Male , Neurologic Examination , Time FactorsABSTRACT
Skeletal muscle biopsies from 18 children and 8 from their mothers were studied in mitochondrial myopathies. It is shown that by means of electron microscopy, histochemistry, and morphometry the correct diagnosis of mitochondrial insufficiency is quite possible.
Subject(s)
Mitochondria/pathology , Mitochondrial Myopathies/pathology , Muscle, Skeletal/pathology , Adolescent , Adult , Biopsy , Child , Child, Preschool , Female , Humans , Male , Mitochondrial Myopathies/geneticsSubject(s)
Anticonvulsants/therapeutic use , Epilepsy/drug therapy , Phenytoin/therapeutic use , Thyroid Gland/drug effects , Adolescent , Child , Child, Preschool , Dose-Response Relationship, Drug , Epilepsy/blood , Epilepsy/physiopathology , Humans , Thyroid Gland/metabolism , Thyroid Hormones/blood , Time FactorsSubject(s)
Epilepsies, Partial/diagnosis , Epilepsy, Tonic-Clonic/diagnosis , Adolescent , Child , Child, Preschool , Electroencephalography , Epilepsies, Partial/genetics , Epilepsies, Partial/therapy , Epilepsy, Tonic-Clonic/genetics , Epilepsy, Tonic-Clonic/therapy , Humans , Neuroradiography , PrognosisABSTRACT
The drug encorat, an analogue of valproic acid (Sun, India) was given to 16 children aged from 4 month to 5 years suffering from resistant forms of early infantile epilepsy. Twelve of them had infantile spasms, four Lennox-Gastaut syndrome. The treatment produced good results in 75% of the patients. Encorat mono- or polychemotherapy is able to discontinue or decrease the frequency of the epileptic fits, improve the patients' condition in resistant early childhood epilepsy.
Subject(s)
Anticonvulsants/therapeutic use , Epilepsy/drug therapy , Hemiplegia/drug therapy , Spasms, Infantile/drug therapy , Valproic Acid/analogs & derivatives , Valproic Acid/therapeutic use , Anticonvulsants/adverse effects , Carbamazepine/therapeutic use , Child, Preschool , Clonazepam/therapeutic use , Drug Therapy, Combination , Epilepsy/diagnosis , Ethosuximide/therapeutic use , Female , Hemiplegia/diagnosis , Humans , Infant , Male , Remission Induction , Spasms, Infantile/diagnosis , Syndrome , Time Factors , Valproic Acid/adverse effectsSubject(s)
Epilepsy/physiopathology , Menstruation Disturbances/physiopathology , Menstruation , Sexual Dysfunction, Physiological/physiopathology , Adolescent , Adult , Epilepsy/complications , Epilepsy/diagnosis , Female , Humans , Menstruation Disturbances/complications , Menstruation Disturbances/diagnosis , Middle Aged , Sexual Behavior , Sexual Dysfunction, Physiological/diagnosis , Sexual Dysfunction, Physiological/etiologySubject(s)
Epilepsy/etiology , Hemiplegia/etiology , Seizures/etiology , Anticonvulsants/therapeutic use , Diagnosis, Differential , Epilepsy/diagnosis , Epilepsy/drug therapy , Female , Hemiplegia/diagnosis , Hemiplegia/drug therapy , Humans , Male , Seizures/diagnosis , Seizures/drug therapy , SyndromeABSTRACT
A variety of temporal epilepsy that manifested by paroxysms in the form of psychosensory and gustatory ones is described. A 20-year-old man was placed under observation. Since 14 years of age he demonstrated attack-like conditions with a sensation of the pushing apart and swelling in the head, of an increase of the head size, and unpleasant sickly sweet taste in the mouth. The attacks were accompanied by anxiety and general weakness. Neurological examination revealed left-handed hemisymptomatology, EEG demonstrated activity prevailing in the occipitotemporal leads on the right. The neuropsychological findings attested to the impairment of the structures of the right temporal lobe. Analysis of the clinical manifestations of epilepsy, of the neurological findings, and the neuropsychologist's conclusion made it possible to suggest the site of the epileptic focus in the field of the hippocamp on the right.
Subject(s)
Epilepsy, Complex Partial/diagnosis , Epilepsy, Temporal Lobe/diagnosis , Taste Disorders/diagnosis , Adult , Electroencephalography , Epilepsy, Complex Partial/blood , Epilepsy, Temporal Lobe/blood , Hallucinations/blood , Hallucinations/diagnosis , Humans , Male , Neurologic Examination , Neuropsychological Tests , Radioimmunoassay , Taste Disorders/bloodSubject(s)
Carbamazepine/therapeutic use , Epilepsy/drug therapy , Thyroid Gland/drug effects , Aging/blood , Aging/drug effects , Carbamazepine/pharmacology , Dose-Response Relationship, Drug , Epilepsy/blood , Epilepsy/physiopathology , Humans , Thyroid Gland/physiopathology , Thyroid Hormones/blood , Time FactorsSubject(s)
Epilepsy/drug therapy , Pregnancy Complications/drug therapy , Abnormalities, Drug-Induced/etiology , Anticonvulsants/adverse effects , Anticonvulsants/pharmacokinetics , Epilepsy/blood , Female , Humans , Infant, Newborn , Maternal-Fetal Exchange , Pregnancy , Pregnancy Complications/bloodABSTRACT
The authors describe a 16-year-old patient suffering from facial scapulohumeral myopathy. The given case is regarded as sporadic. The disease was characterized by an early debut and rapid progression of neuromuscular disorders. Marked myasthenia and muscular atrophy of the face, shoulders, thighs, as well as contractures in the knee joints, hands and feet were noted. By 15 years the patient demonstrated a noticeable progress of motor disorders: she was unable to stand up from the chair, experienced difficulties in walking along the ward, and had a waddle gait. The given symptom-complex corresponds with the infantile variety of facial scapulohumeral myodystrophy.
Subject(s)
Facial Muscles , Muscular Dystrophies/diagnosis , Shoulder , Adolescent , Electromyography , Female , Humans , Muscular Dystrophies/genetics , Neurologic Examination , SyndromeABSTRACT
Osteochin (Quinoin, Hungary) efficacy was studied in the treatment of 20 patients with Duchenne's progressive myodystrophy. The drug was administered in a dose of 200 mg a day for a month. A favorable effect of such therapy was observed in all the patients. Osteochin was found to have a correcting effect on Ca-regulating hormone function and to promote stabilization of the myodystrophic process.
