A CLINICAL CASE OF SYNGAP1 GENE MUTATION IN A GIRL WITH EPILEPSY, MENTAL RETARDATION, AUTISM, AND MOTOR DISORDERS
The introduction of the latest genetic techniques into practice could discover a basis for the comorbidity of genetic epilepsies and behavioral disturbances with cognitive impairments. Some chromosomal syndromes are characterized by a specific electroencephalogram (EEG) pattern, the type of seizures...
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| Format: | Article |
| Language: | Russian |
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ABV-press
2015-11-01
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| Series: | Русский журнал детской неврологии |
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| Online Access: | https://rjdn.abvpress.ru/jour/article/view/109 |
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| author | M. Yu. Bobylova M. B. Mironov M. O. Abramov A. V. Kulikov M. V. Kazakova L. Yu. Glukhova E. I. Barletova K. Yu. Mukhin |
| author_facet | M. Yu. Bobylova M. B. Mironov M. O. Abramov A. V. Kulikov M. V. Kazakova L. Yu. Glukhova E. I. Barletova K. Yu. Mukhin |
| author_sort | M. Yu. Bobylova |
| collection | DOAJ |
| description | The introduction of the latest genetic techniques into practice could discover a basis for the comorbidity of genetic epilepsies and behavioral disturbances with cognitive impairments. Some chromosomal syndromes are characterized by a specific electroencephalogram (EEG) pattern, the type of seizures, and the variant of the course of epilepsy. This paper describes a case of synaptic RAS GTP-ase-activating protein 1 (SYNGAP1) gene mutation in a 9-year-old female patient with eyelid myoclonic epilepsy, atypical absences, and atypical autism with mental retardation. The patient’s parents visited a physician for epilepsy (myoclonic absences), markedly delayed psycho-speech development, and specific communication problems in the child. The characteristics of autistic behavior were manifested from birth; routine EEG recorded epileptiform activity at the age of 2 years; epileptic seizures appeared at 5 years. Valproic acid and levetiracetam in this patient exerted a good effect on seizures; however, a clinical and encephalographic remission was achieved by a combination of levetiracetam and ethosuximide. The clinical case including the neurological and psychic statuses, logopedic characteristics, the result of psychological testing, and video-EEG monitoring findings are analyzed in detail.The SYNGAP1 gene is located on chromosome 6p21.3. About 50 cases of SYNGAP1 syndrome are now known worldwide. After normal maternal pregnancy and delivery, the patients show delayed psychomotor development with pronounced regression at 1 to 3 years of age. At this age, there are diffuse polyspike discharges on the EEG or an onset of generalized epileptic seizures (atonic, myoclonic, eyelid myoclonic, and absence seizures), commonly photosensitivity and autoinduction, mental development stops, speech regresses, behavioral disorders that are typical of autism develop. Drug-resistant epilepsy is noted in approximately half of the described cases. There is a correlation between the severity of epilepsy and cognitive deficit. |
| format | Article |
| id | doaj-art-f358cac1489f48a9b87f90c5da4fe461 |
| institution | Matheson Library |
| issn | 2073-8803 2412-9178 |
| language | Russian |
| publishDate | 2015-11-01 |
| publisher | ABV-press |
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| series | Русский журнал детской неврологии |
| spelling | doaj-art-f358cac1489f48a9b87f90c5da4fe4612025-08-04T14:12:11ZrusABV-pressРусский журнал детской неврологии2073-88032412-91782015-11-01103485410.17650/2073-8803-2015-10-3-48-5498A CLINICAL CASE OF SYNGAP1 GENE MUTATION IN A GIRL WITH EPILEPSY, MENTAL RETARDATION, AUTISM, AND MOTOR DISORDERSM. Yu. Bobylova0M. B. Mironov1M. O. Abramov2A. V. Kulikov3M. V. Kazakova4L. Yu. Glukhova5E. I. Barletova6K. Yu. Mukhin7Svt. Luka’s Institute of Child Neurology and EpilepsySvt. Luka’s Institute of Child Neurology and EpilepsySvt. Luka’s Institute of Child Neurology and EpilepsyMental Health Research CenterMental Health Research CenterSvt. Luka’s Institute of Child Neurology and EpilepsySvt. Luka’s Institute of Child Neurology and EpilepsySvt. Luka’s Institute of Child Neurology and EpilepsyThe introduction of the latest genetic techniques into practice could discover a basis for the comorbidity of genetic epilepsies and behavioral disturbances with cognitive impairments. Some chromosomal syndromes are characterized by a specific electroencephalogram (EEG) pattern, the type of seizures, and the variant of the course of epilepsy. This paper describes a case of synaptic RAS GTP-ase-activating protein 1 (SYNGAP1) gene mutation in a 9-year-old female patient with eyelid myoclonic epilepsy, atypical absences, and atypical autism with mental retardation. The patient’s parents visited a physician for epilepsy (myoclonic absences), markedly delayed psycho-speech development, and specific communication problems in the child. The characteristics of autistic behavior were manifested from birth; routine EEG recorded epileptiform activity at the age of 2 years; epileptic seizures appeared at 5 years. Valproic acid and levetiracetam in this patient exerted a good effect on seizures; however, a clinical and encephalographic remission was achieved by a combination of levetiracetam and ethosuximide. The clinical case including the neurological and psychic statuses, logopedic characteristics, the result of psychological testing, and video-EEG monitoring findings are analyzed in detail.The SYNGAP1 gene is located on chromosome 6p21.3. About 50 cases of SYNGAP1 syndrome are now known worldwide. After normal maternal pregnancy and delivery, the patients show delayed psychomotor development with pronounced regression at 1 to 3 years of age. At this age, there are diffuse polyspike discharges on the EEG or an onset of generalized epileptic seizures (atonic, myoclonic, eyelid myoclonic, and absence seizures), commonly photosensitivity and autoinduction, mental development stops, speech regresses, behavioral disorders that are typical of autism develop. Drug-resistant epilepsy is noted in approximately half of the described cases. There is a correlation between the severity of epilepsy and cognitive deficit.https://rjdn.abvpress.ru/jour/article/view/109epileptic encephalopathyautismdystoniaataxiagenome sequencingvideo-electroencephalographic monitoring |
| spellingShingle | M. Yu. Bobylova M. B. Mironov M. O. Abramov A. V. Kulikov M. V. Kazakova L. Yu. Glukhova E. I. Barletova K. Yu. Mukhin A CLINICAL CASE OF SYNGAP1 GENE MUTATION IN A GIRL WITH EPILEPSY, MENTAL RETARDATION, AUTISM, AND MOTOR DISORDERS Русский журнал детской неврологии epileptic encephalopathy autism dystonia ataxia genome sequencing video-electroencephalographic monitoring |
| title | A CLINICAL CASE OF SYNGAP1 GENE MUTATION IN A GIRL WITH EPILEPSY, MENTAL RETARDATION, AUTISM, AND MOTOR DISORDERS |
| title_full | A CLINICAL CASE OF SYNGAP1 GENE MUTATION IN A GIRL WITH EPILEPSY, MENTAL RETARDATION, AUTISM, AND MOTOR DISORDERS |
| title_fullStr | A CLINICAL CASE OF SYNGAP1 GENE MUTATION IN A GIRL WITH EPILEPSY, MENTAL RETARDATION, AUTISM, AND MOTOR DISORDERS |
| title_full_unstemmed | A CLINICAL CASE OF SYNGAP1 GENE MUTATION IN A GIRL WITH EPILEPSY, MENTAL RETARDATION, AUTISM, AND MOTOR DISORDERS |
| title_short | A CLINICAL CASE OF SYNGAP1 GENE MUTATION IN A GIRL WITH EPILEPSY, MENTAL RETARDATION, AUTISM, AND MOTOR DISORDERS |
| title_sort | clinical case of syngap1 gene mutation in a girl with epilepsy mental retardation autism and motor disorders |
| topic | epileptic encephalopathy autism dystonia ataxia genome sequencing video-electroencephalographic monitoring |
| url | https://rjdn.abvpress.ru/jour/article/view/109 |
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