Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0014547 (focal epilepsy)
 1,627 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The case of a 7-year-old boy suffering from recurrent nocturnal and occasional daytime attacks with intense fear and complex visual hallucinations is presented. His state was otherwise normal, as were routine electroencephalographic (EEG) and magnetic resonance imaging (MRI) investigations in the past. Several differential diagnoses such as panic disorder, pavor nocturnus, and nightmares were considered but could not be definitely established or excluded. Since the attacks appeared after the divorce of his parents, an adjustment disorder was suspected, and the patient received psychotherapy for more than 2 years without an effect on the attacks. Only when long-term video-EEG recorded two typical attacks with left temporal ictal seizure patterns was focal epilepsy diagnosed and successfully treated with antiepileptic medication. A suspected origin of seizures in the amygdala was supported by a high-resolution MRI showing a cortical dysplasia extending from the left anteromedial temporal lobe to the amygdala. The case exemplifies difficulties in the differential diagnosis of panic-like attacks and underlines the value of long-term video-EEG, which may be necessary to establish the correct diagnosis and to prevent ineffective therapeutical approaches.
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PMID:Recurrent attacks of fear and visual hallucinations in a child. 1202 43

Theodore Brown Rasmussen succeeded Wilder Penfield as director of the Montreal Neurological Institute (MNI) and held this post from 1960 to 1972. During his career, Rasmussen probably performed more operations for epilepsy than any other surgeon of his time; he became the foremost authority in this field. His meticulous follow-up analyses of the MNI seizure series provided substantial evidence for the success of surgery in the treatment of focal epilepsy. In addition, he made significant contributions to surgery of the pituitary gland for control of cancer, treatment of cerebral and spinal tumors, application of the intracarotid Amytal test for lateralization of speech and memory function, and characterization and treatment of epilepsy accompanied by chronic encephalitis, now referred to as Rasmussen syndrome. His painstaking attention to surgical details as well as his insistence on close monitoring of patient care and critical scrutiny of clinical results marked him as an outstanding teacher and role model for young neurosurgeons and neuroscientists.
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PMID:Theodore Brown Rasmussen (1910-2002): epilepsy surgeon, scientist, and teacher. 1265 Apr 40

Feingold syndrome (FS) is a dominantly inherited combination of microcephaly with or without learning disabilities, hand and foot abnormalities, short palpebral fissures and esophageal/duodenal atresia. The syndrome has autosomal dominant inheritance with full penetrance, and variable expressivity. Digital anomalies are almost always present. The gene for FS is localized to a 2.2 cM region in 2p23-p24. We report on the first Turkish family with Feingold syndrome. The propositus is a male infant with microcephaly, frontal balding, brachymesophalangy of the second and fifth fingers, bilateral syndactyly of toes 2-3, facial anomalies, choanal atresia and focal epilepsy. His father has microcephaly, and more severe hands and feet abnormalities. One of his brothers died because of eosofageal atresia. Clinical presentation of the family was suggestive of Feingold syndrome, and genetic testing of the MYCN gene confirmed the diagnosis. The missense mutation we report here has not been described previously. FS is an autosomal dominant condition, and therefore, the diagnosis has important implications for genetic counseling.
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PMID:A Feingold syndrome case with previously undescribed features and a new mutation. 1985 33

Musicogenic epilepsy is a rare syndrome in which music triggers seizures. Affective network processing appears to play a key role in epileptogenesis. Many people with epilepsy suffer from comorbid affective disorders, the shared basis of which involves similar pathophysiologies, including deficiencies of serotonergic and noradrenergic function. Seizures and mood disorders may thus have reciprocal effects on one another, particularly in emotionally precipitated syndromes such as musicogenic epilepsy. I report a man with long-standing depression and anxiety who developed focal epilepsy that evolved into musicogenic seizures. His case suggests a pathophysiologic basis for this shared phenomenon.
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PMID:Musicogenic Epilepsy and Treatment of Affective Disorders: Case Report and Review of Pathogenesis. 2798 59

Benign focal epilepsy with affective symptoms (BFEAS) is a rare childhood epilepsy syndrome essentially characterized by "epileptic attacks with affective symptoms of a terrifying type". Since the original description, approximately 50 cases have been reported. To our knowledge, however, none of the studies included video-EEG data. Herein, we detail the electroclinical features of a neurodevelopmentally normal 9-year-old boy with epilepsy since the age of 2 years. His seizure semiology essentially consisted of nocturnal focal seizures featuring abrupt fear and autonomic phenomena (such as excessive sweating, repeated swallowing, and coughing), associated with impaired consciousness. These seizures were often secondary generalized, and he had multiple episodes of convulsive status epilepticus. He has been seizure-free for the past year and a half on dual antiepileptic therapy with sulthiamine and valproate. His intellectual and social abilities are excellent (IQ of 116), although he does have difficulties particularly in language learning, and was recently diagnosed with phonological dyslexia with dysorthography. By presenting our patient's history and video-EEG, we intend to further detail the semiology of seizures with affective symptomatology. [Published with video sequence on www.epilepticdisorders.com].
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PMID:The semiology of benign focal epilepsy with affective symptoms. 2859 65

Mutations in the ATP1A2 gene cause familial hemiplegic migraine type 2, alternating hemiplegia of childhood, and cerebellar function deficits, epilepsy, and mental retardation. These symptoms are likely related to glutamatergic hyperexcitability. Our patient is a 12-year-old boy with a history of complex partial seizures, attention-deficit/hyperactivity disorder, and fine motor difficulty. During early childhood, he had episodes of a self-resolving right-sided hemiparesis and focal epilepsy. His seizures did not respond to several antiepileptic medications but stopped after he received valproate. His intermittent episodes of hemiplegia persisted. Additionally, he had pronounced bilateral fine motor impairment and significant executive deficits that gradually worsened. The whole exome sequencing revealed a de novo missense mutation in the ATP1A2 gene and a maternally inherited POLG gene mutation of unknown clinical significance. We hypothesized that glutamatergic excitotoxicity due to the ATP1A2 mutation contributed to the pathogenesis of our patient's condition. He was started on N-methyl-D-aspartate receptor antagonists (memantine and dextromethorphan), as well as coenzyme Q10 One year later, he showed significant improvement in sustained attention, learning efficiency, general cognitive efficiency, and fine motor dexterity. We postulate that N-methyl-D-aspartate receptor antagonists were effective for behavioral, cognitive, and cerebellar symptoms in our patient with ATP1A2 gene mutation.
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PMID:Clinical Benefit of NMDA Receptor Antagonists in a Patient With ATP1A2 Gene Mutation. 2961 Jan 57

Blue rubber bleb nevus syndrome (BRBNS), also called Bean's syndrome, is a rare disease associated with multiple venous malformations in the skin and gastrointestinal (GI) tract. Dermatological lesions, which are the first clinically visible manifestations, appear as skin-colored compressible protuberances or as dark-blue venous nodules, rubbery in consistency. Central nervous system (CNS) manifestations are rare, variable, non-specific, and tend to occur late in the disease, mainly reported as seizures and focal neurological deficits secondary to compression. Most cases occur sporadically, however, an autosomal dominant inheritance pattern has been reported. A 74-year-old male with history of focal epilepsy secondary to possible neurocysticercosis presented at the emergency department due to sudden onset of aphasia, left central facial paralysis, and dysphagia secondary to catastrophic intracerebral hemorrhage. Cerebral MRI showed multiple cerebral cavernous malformations (CCM)-like lesions and, on the general exploration, multiple dark-blue nodules, rubbery in consistency. One week later he died due to complicated pneumonia; a brain autopsy was performed showing multiple vascular malformations. His son had a history of focal epilepsy presumed to be related to neurocysticercosis. He had the same skin lesions and brain MRI pattern. Histological analysis of the skin lesions of the two cases showed venous vascular malformations. A non-systematic review was carried out, in which all case reports of blue nevus syndrome with neurological manifestations in adults were included.
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PMID:Blue Rubber Bleb Nevus Syndrome With Multiple Cavernoma-Like Lesions on MRI: A Familial Case Report and Literature Review. 3231 9