Kristine Lossius

Akershus University Hospital

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Anne de Saint Martin

Université de Strasbourg

Paweł Stankiewicz

Baylor College of Medicine

Ingrid Cristian

Orlando Health

Ignacio Briceño

Universidad de La Sabana

Inger‐Lise Mero

Oslo University Hospital

Allan Bayat

University of Southern Denmark

David B. Beck

Center for Human Genetics

Jamel Chelly

Inserm

Julián A. Martínez-Agosto

University of California, Los Angeles

Arie van Haeringen

Leiden University Medical Center

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Inserm

Centre National de la Recherche Scientifique

University of Southern Denmark

Université de Strasbourg

Hôpitaux Universitaires de Strasbourg

Assistance Publique – Hôpitaux de Paris

Baylor College of Medicine

Medical University of Białystok

Hôpital d'Hautepierre

Institut de génétique et de biologie moléculaire et cellulaire

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Phenotypic expansion of the BPTF‐related neurodevelopmental disorder with dysmorphic facies and distal limb anomalies

American Journal of Medical Genetics Part A (2021)

Kevin E. Glinton Anna Hurst Kevin M. Bowling Ingrid Cristian Devon Haynes

Abstract Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies (NEDDFL), defined primarily by developmental delay/intellectual disability, speech delay, postnatal microcephaly, and dysmorphic features, is a syndrome resulting from heterozygous variants in the dosage‐sensitive bromodomain PHD finger chromatin remodeler transcription factor BPTF gene. To date, only 11 individuals with NEDDFL due to de novo BPTF variants have been described. To expand the NEDDFL phenotypic spectrum, we describe the clinical features in 25 novel individuals with 20 distinct, clinically relevant variants in BPTF , including four individuals with inherited changes in BPTF . In addition to the previously described features, individuals in this cohort exhibited mild brain abnormalities, seizures, scoliosis, and a variety of ophthalmologic complications. These results further support the broad and multi‐faceted complications due to haploinsufficiency of BPTF .

Haploinsufficiency

Microcephaly

Speech delay

Neurodevelopmental disorder

PHD finger

10.1002/ajmg.a.62102

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[RSV-prophylaxis--to whom?].

PubMed (2000)

Kristine Lossius

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Remarkable effect of transdermal nicotine in children with CHRNA4-related autosomal dominant sleep-related hypermotor epilepsy

Epilepsy & Behavior (2020)

Kristine Lossius Anne de Saint Martin Sverre Myren‐Svelstad Marit Bjørnvold Guro Minken

ObjectiveAutosomal dominant sleep-related hypermotor epilepsy (ADSHE) is characterized by hypermotor seizures and may be caused by gain-of-function mutations affecting the nicotinic acetylcholine receptor (nAChR). Benefit from nicotine consumption has been reported in adult patients with this disorder. For the first time, the effect of transdermal nicotine is evaluated in children.MethodsTransdermal nicotine was applied to three boys, two aged 10 years (7 mg/24 h) and one six years (3.5 mg/24 h). Autosomal dominant sleep-related hypermotor epilepsy was caused by the p.S280F-CHRNA4 (cholinergic receptor, nicotinic, alpha polypeptide 4) mutation. The children suffered from frequent, persistent nocturnal seizures and had developed educational and psychosocial problems. Seizure frequency and cognitive and behavioral parameters were assessed before and after treatment.ResultsA striking seizure reduction was reported soon after treatment onset. Hypermotor seizures disappeared; only sporadic arousals, sometimes with minor motor elements, were observed. Psychometric testing documented improvement in cognitive domains such as visuospatial ability, processing speed, memory, and some areas of executive functions.SignificanceNicotine appears to be a mechanistic treatment for this specific disorder, probably because of desensitization of the mutated receptors. It may control seizures resistant to conventional drugs for epilepsy and impact socioeducational function in children. This mode of precision therapy should receive more attention and should be available to more patients with uncontrolled CHRNA4-related ADSHE across the age span.

10.1016/j.yebeh.2020.106944

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