Clinical evolution and epilepsy outcome in three patients with CDKL5-related developmental encephalopathy (notice n° 246283)

détails MARC
000 -LEADER
fixed length control field 01307cam a2200325 4500500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250112070531.0
041 ## - LANGUAGE CODE
Language code of text/sound track or separate title fre
042 ## - AUTHENTICATION CODE
Authentication code dc
100 10 - MAIN ENTRY--PERSONAL NAME
Personal name Bernardo, Pia
Relator term author
245 00 - TITLE STATEMENT
Title Clinical evolution and epilepsy outcome in three patients with CDKL5-related developmental encephalopathy
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Date of publication, distribution, etc. 2019.<br/>
500 ## - GENERAL NOTE
General note 32
520 ## - SUMMARY, ETC.
Summary, etc. AimsTo further characterise CDKL5-related disorder, previously classified as an early-onset seizure variant of Rett syndrome, which is currently considered a specific and independent early-infantile epileptic encephalopathy.
690 ## - LOCAL SUBJECT ADDED ENTRY--TOPICAL TERM (OCLC, RLIN)
Topical term or geographic name as entry element CDKL5 gene
690 ## - LOCAL SUBJECT ADDED ENTRY--TOPICAL TERM (OCLC, RLIN)
Topical term or geographic name as entry element neurodevelopmental encephalopathy
690 ## - LOCAL SUBJECT ADDED ENTRY--TOPICAL TERM (OCLC, RLIN)
Topical term or geographic name as entry element developmental delay
690 ## - LOCAL SUBJECT ADDED ENTRY--TOPICAL TERM (OCLC, RLIN)
Topical term or geographic name as entry element honeymoon period
690 ## - LOCAL SUBJECT ADDED ENTRY--TOPICAL TERM (OCLC, RLIN)
Topical term or geographic name as entry element epileptic encephalopathy
690 ## - LOCAL SUBJECT ADDED ENTRY--TOPICAL TERM (OCLC, RLIN)
Topical term or geographic name as entry element genetic epilepsy
690 ## - LOCAL SUBJECT ADDED ENTRY--TOPICAL TERM (OCLC, RLIN)
Topical term or geographic name as entry element Rett syndrome
700 10 - ADDED ENTRY--PERSONAL NAME
Personal name Ferretti, Alessandro
Relator term author
700 10 - ADDED ENTRY--PERSONAL NAME
Personal name Terrone, Gaetano
Relator term author
700 10 - ADDED ENTRY--PERSONAL NAME
Personal name Santoro, Claudia
Relator term author
700 10 - ADDED ENTRY--PERSONAL NAME
Personal name Bravaccio, Carmela
Relator term author
700 10 - ADDED ENTRY--PERSONAL NAME
Personal name Striano, Salvatore
Relator term author
700 10 - ADDED ENTRY--PERSONAL NAME
Personal name Coppola, Antonietta
Relator term author
700 10 - ADDED ENTRY--PERSONAL NAME
Personal name Striano, Pasquale
Relator term author
786 0# - DATA SOURCE ENTRY
Note Epileptic Disorders | Vol 21 | 3 | 2019-03-01 | p. 271-277 | 1294-9361
856 41 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://shs.cairn.info/revue-epileptic-disorders-2019-3-page-271?lang=en">https://shs.cairn.info/revue-epileptic-disorders-2019-3-page-271?lang=en</a>

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