Barakat-Perenthaler syndrome
Barakat-Perenthaler syndrome is a rare neurodevelopmental genetic disorder, presenting with a severe epileptic encephalopathy, developmental delay, Intellectual disability, progressive microcephaly and visual disturbance. It is listed by the standard reference, Online Mendelian Inheritance in Man (OMIM) as #618744. and classified as EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 83; EIEE83. It was first described in 2019 by Dr. Stefan Barakat and his team at the Erasmus University Medical Center in Rotterdam in the journal Acta Neuropathologica; the most recent review was published in Epilepsy Currents.
Link from a Wikipage to another Wikipage
primaryTopic
Barakat-Perenthaler syndrome
Barakat-Perenthaler syndrome is a rare neurodevelopmental genetic disorder, presenting with a severe epileptic encephalopathy, developmental delay, Intellectual disability, progressive microcephaly and visual disturbance. It is listed by the standard reference, Online Mendelian Inheritance in Man (OMIM) as #618744. and classified as EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 83; EIEE83. It was first described in 2019 by Dr. Stefan Barakat and his team at the Erasmus University Medical Center in Rotterdam in the journal Acta Neuropathologica; the most recent review was published in Epilepsy Currents.
has abstract
Barakat-Perenthaler syndrome i ...... ublished in Epilepsy Currents.
@en
Wikipage page ID
63,627,352
page length (characters) of wiki page
Wikipage revision ID
972,518,180
Link from a Wikipage to another Wikipage
wikiPageUsesTemplate
comment
Barakat-Perenthaler syndrome i ...... ublished in Epilepsy Currents.
@en
label
Barakat-Perenthaler syndrome
@en