PMID- 33659201
OWN - NLM
STAT- PubMed-not-MEDLINE
LR  - 20210305
IS  - 2233-6249 (Print)
IS  - 2233-6257 (Electronic)
IS  - 2233-6249 (Linking)
VI  - 10
IP  - 2
DP  - 2020 Dec
TI  - Chromosome 15q BP4-BP5 Deletion in a Girl with Nocturnal Frontal Lobe Epilepsy, 
      Migraine, Circumscribed Hypertrichosis, and Language Impairment.
PG  - 84-91
LID - 10.14581/jer.20014 [doi]
AB  - The 15q13.3 microdeletion (microdel15q13.3) syndrome (OMIM 612001) has been 
      reported in healthy subjects as well as in individuals with a wide spectrum of 
      clinical manifestations ranging from mild to severe neurological disorders, 
      including developmental delay/intellectual disability, autism spectrum disorder, 
      schizophrenia, epilepsy, behavioral problems and speech dysfunction. This study 
      explored the link between this genomic rearrangement and nocturnal frontal lobe 
      epilepsy (NFLE), which could improve the clinical interpretation. A clinical and 
      genomic investigation was carried out on an 8-year-girl with a de novo deletion 
      flanking the breakpoints (BPs) 4 and 5 of 15q13.3 detected by array comparative 
      genomic hybridization analysis, affected by NFLE, migraine with aura, minor 
      facial features, mild cognitive and language impairment, and circumscribed 
      hypertrichosis. Literature survey of clinical studies was included. Nine years 
      follow-up have displayed a benign course of the epileptic disorder with a 
      progressive reduction and disappearance of the epileptic seizures, mild 
      improvement of cognitive and language skills, partial cutaneous hypertrichosis 
      regression, but stable ongoing of migraine episodes. A likely relationship 
      between the BP4-BP5 deletion and NFLE with other symptoms presented by the girl 
      is discussed together with a review of the literature on phenotypic features in 
      microdel15q13.3.
CI  - Copyright (c) 2020 Korean Epilepsy Society.
FAU - Pavone, Piero
AU  - Pavone P
AD  - Unit of Pediatrics and Pediatric Emergency, University Hospital 
      "Policlinico-Vittorio Emanuele", Catania, Italy.
FAU - Pappalardo, Xena Giada
AU  - Pappalardo XG
AD  - Unit of Catania, Institute for Biomedical Research and Innovation (IRIB), 
      National Council of Research, Catania, Italy.
AD  - Department of Biomedical and Biotechnological Sciences (BIOMETEC), University of 
      Catania, Catania, Italy.
FAU - Ohazuruike, Ugochi Ngaobiri Nelly
AU  - Ohazuruike UNN
AD  - Department of General Surgery and Medical-Surgical Specialties, University of 
      Catania, Catania, Italy.
FAU - Striano, Pasquale
AU  - Striano P
AD  - Pediatric Neurology and Muscular Diseases Unit, IRCCS 'G. Gaslini' Institute, 
      Genoa, Italy.
FAU - Parisi, Pasquale
AU  - Parisi P
AD  - Child Neurology, NESMOS Department, Faculty of Medicine & Psychology, "Sapienza" 
      University, c/o Sant'Andrea Hospital, Rome, Italy.
FAU - Corsello, Giovanni
AU  - Corsello G
AD  - Department of Sciences for Health Promotion and Mother and Child Care "G. 
      D'Alessandro", University of Palermo, Palermo, Italy.
FAU - Marino, Simona Domenica
AU  - Marino SD
AD  - Unit of Neonatology University Hospital "Policlinico-Vittorio Emanuele", Catania, 
      Italy.
FAU - Ruggieri, Martino
AU  - Ruggieri M
AD  - Unit of Pediatrics and Pediatric Emergency, University Hospital 
      "Policlinico-Vittorio Emanuele", Catania, Italy.
FAU - Parano, Enrico
AU  - Parano E
AD  - Unit of Catania, Institute for Biomedical Research and Innovation (IRIB), 
      National Council of Research, Catania, Italy.
FAU - Falsaperla, Raffaele
AU  - Falsaperla R
AD  - Unit of Neonatology University Hospital "Policlinico-Vittorio Emanuele", Catania, 
      Italy.
LA  - eng
PT  - Case Reports
DEP - 20201231
PL  - Korea (South)
TA  - J Epilepsy Res
JT  - Journal of epilepsy research
JID - 101577886
PMC - PMC7903043
OTO - NOTNLM
OT  - Chromosome breakpoints
OT  - Frontal lobe epilepsy
OT  - Hypertrichosis
OT  - Language disorders
OT  - Migraine disorders
COIS- Conflict of Interest The authors declare that they have no conflicts of interest.
EDAT- 2021/03/05 06:00
MHDA- 2021/03/05 06:01
PMCR- 2020/12/31
CRDT- 2021/03/04 05:55
PHST- 2020/09/02 00:00 [received]
PHST- 2020/10/06 00:00 [revised]
PHST- 2020/11/25 00:00 [accepted]
PHST- 2021/03/04 05:55 [entrez]
PHST- 2021/03/05 06:00 [pubmed]
PHST- 2021/03/05 06:01 [medline]
PHST- 2020/12/31 00:00 [pmc-release]
AID - jer-20014 [pii]
AID - 10.14581/jer.20014 [doi]
PST - epublish
SO  - J Epilepsy Res. 2020 Dec 31;10(2):84-91. doi: 10.14581/jer.20014. eCollection 
      2020 Dec.