Pitt–Hopkins syndrome with electrical status epilepticus in slow-wave sleep: a case report
Pitt–Hoppkins syndrome is rare genetic disorder caused by a molecular variant of TCF4 which is involved in embryologic neuronal differentiation. The syndrome is characterized by specific facial dysmorphism, phychomotor delay, autistic behavior and intellectual disability. Other associated features i...
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ABV-press
2019-07-01
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| Series: | Russkij Žurnal Detskoj Nevrologii |
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| Online Access: | https://rjdn.abvpress.ru/jour/article/view/297 |
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doaj-b090cbb126e14eb9ac2d4c120e3fdd842021-07-29T08:20:42ZrusABV-pressRusskij Žurnal Detskoj Nevrologii2073-88032412-91782019-07-01142424810.17650/2073-8803-2019-14-2-42-48204Pitt–Hopkins syndrome with electrical status epilepticus in slow-wave sleep: a case reportN. G. Lyukshina0MIDEAL LLCPitt–Hoppkins syndrome is rare genetic disorder caused by a molecular variant of TCF4 which is involved in embryologic neuronal differentiation. The syndrome is characterized by specific facial dysmorphism, phychomotor delay, autistic behavior and intellectual disability. Other associated features include ealy-onset myopia, seizures, constipation and hyperventilation-apneic spells. We introduced a clinical case of the patient with molecularly confirmed TCF4 variant and previously undescribed combination with syndrome of the electrical status epilepticus during sleep.https://rjdn.abvpress.ru/jour/article/view/297developmental delayautismintellectual disabilityepilepsygeneticsophthalmologybehavior |
| collection |
DOAJ |
| language |
Russian |
| format |
Article |
| sources |
DOAJ |
| author |
N. G. Lyukshina |
| spellingShingle |
N. G. Lyukshina Pitt–Hopkins syndrome with electrical status epilepticus in slow-wave sleep: a case report Russkij Žurnal Detskoj Nevrologii developmental delay autism intellectual disability epilepsy genetics ophthalmology behavior |
| author_facet |
N. G. Lyukshina |
| author_sort |
N. G. Lyukshina |
| title |
Pitt–Hopkins syndrome with electrical status epilepticus in slow-wave sleep: a case report |
| title_short |
Pitt–Hopkins syndrome with electrical status epilepticus in slow-wave sleep: a case report |
| title_full |
Pitt–Hopkins syndrome with electrical status epilepticus in slow-wave sleep: a case report |
| title_fullStr |
Pitt–Hopkins syndrome with electrical status epilepticus in slow-wave sleep: a case report |
| title_full_unstemmed |
Pitt–Hopkins syndrome with electrical status epilepticus in slow-wave sleep: a case report |
| title_sort |
pitt–hopkins syndrome with electrical status epilepticus in slow-wave sleep: a case report |
| publisher |
ABV-press |
| series |
Russkij Žurnal Detskoj Nevrologii |
| issn |
2073-8803 2412-9178 |
| publishDate |
2019-07-01 |
| description |
Pitt–Hoppkins syndrome is rare genetic disorder caused by a molecular variant of TCF4 which is involved in embryologic neuronal differentiation. The syndrome is characterized by specific facial dysmorphism, phychomotor delay, autistic behavior and intellectual disability. Other associated features include ealy-onset myopia, seizures, constipation and hyperventilation-apneic spells. We introduced a clinical case of the patient with molecularly confirmed TCF4 variant and previously undescribed combination with syndrome of the electrical status epilepticus during sleep. |
| topic |
developmental delay autism intellectual disability epilepsy genetics ophthalmology behavior |
| url |
https://rjdn.abvpress.ru/jour/article/view/297 |
| work_keys_str_mv |
AT nglyukshina pitthopkinssyndromewithelectricalstatusepilepticusinslowwavesleepacasereport |
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