NEUROLOGY: GENETICS 是一本在线开放获取期刊，发表神经遗传学领域的同行评议报告。神经遗传学所有领域的原创文章都将发表，包括罕见和常见的遗传变异、基因型-表型相关性、已知疾病基因突变导致的异常表型以及与疾病有推定联系的遗传变异。这将包括报告遗传疾病风险和药物基因组学的研究。此外，NEUROLOGY: GENETICS 将发布基于基因的临床试验（病毒、ASO 等）的结果。基因工程模型系统不是神经病学的主要关注点：遗传学，但欢迎使用模型系统进行治疗试验的研究，包括报告阴性结果的有力研究。

Neurology: Genetics is an online open-access journal dedicated to peer-reviewed research in the field of neurogenetics. The journal welcomes original articles covering all aspects of neurogenetics, including rare and common genetic variants, genotype-phenotype correlations, abnormal phenotypes resulting from known disease gene mutations, and genetic variants with presumed links to diseases. Additionally, Neurology: Genetics will publish research related to genetic disease risk and pharmacogenomics. While gene-engineered model systems are not the primary focus of neurology, studies utilizing model systems for therapeutic trials, including robust studies reporting negative results, are also welcomed.

《Neurology: Genetics》是一本在线开放获取期刊，专注于神经遗传学领域的同行评审研究。该期刊欢迎发表所有与神经遗传学相关的原创文章，包括罕见和常见的遗传变异、基因型与表型的相关性、已知疾病基因突变导致的异常表型，以及与疾病相关的潜在遗传变异。此外，《Neurology: Genetics》还将发布与遗传疾病风险和药物基因组学相关的研究成果。期刊也欢迎基于基因的临床试验（如病毒、ASO等）的结果，但基因工程模型系统并不是神经病学的主要关注点，然而，使用模型系统进行治疗试验的研究，包括报告阴性结果的研究，仍然受到欢迎。

Neurology: Genetics

<h3>Background and Objectives</h3> Spinal muscular atrophy (SMA) is mainly caused by homozygous <i>SMN1</i> gene deletions on 5q13. Non-5q SMA patients' series are lacking, and the diagnostic yield of next-generation sequencing (NGS) is largely unknown. The aim of this study was to describe the clinical and genetic landscape of non-5q SMA and evaluate the performance of neuropathy gene panels in these disorders. <h3>Methods</h3> Description of patients with non-5q SMA followed in the different neuromuscular reference centers in France as well as in London, United Kingdom. Patients without a genetic diagnosis had undergone at least a neuropathy or large neuromuscular gene panel. <h3>Results</h3> Seventy-one patients from 65 different families were included, mostly sporadic cases (60.6%). At presentation, 21 patients (29.6%) showed exclusive proximal weakness (P-SMA), 35 (49.3%) showed associated distal weakness (PD-SMA), and 15 (21.1%) a scapuloperoneal phenotype (SP-SMA). Thirty-two patients (45.1%) had a genetic diagnosis: <i>BICD2</i> (n = 9), <i>DYNC1H1</i> (n = 7), <i>TRPV4</i> (n = 4), <i>VCP</i>, <i>HSBP1</i>, <i>AR</i> (n = 2), <i>VRK1</i>, <i>DNAJB2</i>, <i>MORC2</i>, <i>ASAH1</i>, <i>HEXB</i>, and unexpectedly, <i>COL6A3</i> (n = 1). The genetic diagnostic yield was lowest in P-SMA (6/21, 28.6%) compared with PD-SMA (16/35, 45.7%) and SP-SMA (10/15, 66.7%). An earlier disease onset and a family history of the disease or consanguinity were independent predictors of a positive genetic diagnosis. Neuropathy gene panels were performed in 59 patients with a 32.2% diagnostic yield (19/59). In 13 additional patients, a genetic diagnosis was achieved through individual gene sequencing or an alternative neuromuscular NGS. <h3>Discussion</h3> Non-5q SMA is genetically heterogeneous, and neuropathy gene panels achieve a molecular diagnosis in one-third of the patients. The diagnostic yield can be increased by sequencing of other neuromuscular and neurometabolic genes. Nevertheless, there is an unmet need to cluster these patients to aid in the identification of new genes.

Gorka Fernández-Eulate

Julian Theuriet

Christopher J. Record

Giorgia Querin

Marion Masingue

Sarah Leonard-Louis

Anthony Behin

Nadine Le Forestier

Antoine Pegat

Maud Michaud

Jean-Baptiste Chanson

Aleksandra Nadaj-Pakleza

Celine Tard

Anne-Laure Bedat-Millet

Guilhem Sole

Marco Spinazzi

Emmanuelle Salort-Campana

Andoni Echaniz-Laguna

Vianney Poinsignon

Philippe Latour

Mary M. Reilly

Francoise Bouhour

Tanya Stojkovic

Neurology Genetics

Phenotype Presentation and Molecular Diagnostic Yield in Non-5q Spinal Muscular Atrophy

非5q脊髓性肌萎缩的表型表现和分子诊断率

To describe electroclinical features and outcome of 6 patients harboring KCNB1 mutations.Clinical, EEG, neuropsychological, and brain MRI data analysis. Targeted next-generation sequencing of a 95 epilepsy gene panel.The mean age at seizure onset was 11 months. The mean follow-up of 11.3 years documented that 4 patients following an infantile phase of frequent seizures became seizure free; the mean age at seizure offset was 4.25 years. Epilepsy phenotypes comprised West syndrome in 2 patients, infantile-onset unspecified generalized epilepsy, myoclonic and photosensitive eyelid myoclonia epilepsy resembling Jeavons syndrome, Lennox-Gastaut syndrome, and focal epilepsy with prolonged occipital or clonic seizures in each and every one. Five patients had developmental delay prior to seizure onset evolving into severe intellectual disability with absent speech and autistic traits in one and stereotypic hand movements with impulse control disorder in another. The patient with Jeavons syndrome evolved into moderate intellectual disability. Mutations were de novo, 4 missense and 2 nonsense, 5 were novel, and 1 resulted from somatic mosaicism.KCNB1-related manifestations include a spectrum of infantile-onset generalized or focal seizures whose combination leads to early infantile epileptic encephalopathy including West, Lennox-Gastaut, and Jeavons syndromes. Long-term follow-up highlights that following a stormy phase, seizures subside or cease and treatment may be eased or withdrawn. Cognitive and motor functions are almost always delayed prior to seizure onset and evolve into severe, persistent impairment. Thus, KCNB1 mutations are associated with diffuse brain dysfunction combining seizures, motor, and cognitive impairment.

Carla Marini

Michele Romoli

Elena Parrini

Cinzia Costa

Davide Mei

Francesco Mari

Lucio Parmeggiani

Elena Procopio

Tiziana Metitieri

Elena Cellini

Simona Virdò

Dalila De Vita

Mattia Gentile

Paolo Prontera

Paolo Calabresi

Renzo Guerrini

Clinical features and outcome of 6 new patients carrying de novo <i>KCNB1</i> gene mutations

6例新发<i>KCNB1</i>基因突变患者的临床特征及预后

Migraine is strongly comorbid with irritable bowel syndrome (IBS), one of several gastrointestinal (GI) conditions that are distinguished by symptomatic profiles that are partly overlapping. Potential shared mechanisms of migraine and the GI conditions were investigated by assessing shared genetics on a genome-wide basis.

Daniel I. Chasman

Yanjun Guo

Andrew T. Chan

Pamela M. Rist

Kyle Staller

Shared Genetics of Migraine and Gastrointestinal Disorders Implicates Underlying Neurologic Mechanisms Yet Heterogeneous Etiologies

偏头痛与胃肠道疾病共享遗传学：揭示潜在神经机制但病因异质性

Esmee S.B. van Kleef

Karlijn Bouman

Joery P.F. Molenaar

Benno Küsters

Jan T. Groothuis

Montse Olivé

Edoardo Malfatti

Erik-Jan Kamsteeg

Baziel G.M. Van Engelen

Coen A.C. Ottenheijm

Jonne Doorduin

Nicol C. Voermans

Nemaline Myopathy Type 6 Caused by Variants in the <i>KBTBD13</i> Gene

KBTBD13基因变异导致的线状肌病6型

Primary hypokalemic periodic paralysis (HypoPP) is a muscle channelopathy that can cause periodic paralysis and permanent weakness. Currently, little is known about how progressive this myopathy is. Natural history data for HypoPP can potentially answer the question of progressiveness and form the basis for outcome measures to be used in follow-up and emerging treatment trials. We aimed to describe the natural history of HypoPP and assess whether quantitative fat imaging is a valuable biomarker to monitor disease progression.

Sonja Holm-Yildiz

Thomas Krag

Tina Dysgaard

Britt Stævnsbo Pedersen

Nanna Witting

Louise Sloth Kodal

Linda Kannuberg

Jonas Jalili Pedersen

Zhe Lyu

Morten Müller Aagaard

John Vissing

Quantitative Muscle MRI to Monitor Disease Progression in Hypokalemic Period Paralysis

低钾性周期性麻痹疾病进展的定量肌肉磁共振监测

Ai Huey Tan

Paula Saffie-Awad

Artur F. Schumacher Schuh

Shen-Yang Lim

Harutyun Madoev

Azlina Ahmad-Annuar

J. Solle

Claire E. Wegel

Maria Leila Doquenia

Sumit Dey

Maria Teresa Perinan

Mary B. Makarious

Brian Fiske

Huw R. Morris

Alastair J. Noyce

Roy N. Alcalay

Kishore Raj Kumar

Christine Klein

Global Perspectives on Returning Genetic Research Results in Parkinson Disease

帕金森病遗传研究结果返回的全球视角

In adults, inborn metabolic diseases are often missed in routine diagnostic settings due to a low level of suspicion.

Tobias Bachmann

Helene Faust

Rami Abou Jamra

Christina Pott

Michael Kluge

Jost-Julian Rumpf

Florian Then Bergh

Skadi Beblo

Adult Neuropsychiatric Manifestation of Hartnup Disease With a Novel <i>SLCA6A19</i> Variant

成人Hartnup病伴新型<i>SLCA6A19</i>变异的神经精神表现

Abbreviation	Neurol. Genet.
Journal Impact	2.99
Quartiles(Global)	GENETICS & HEREDITY(Q2)

ISSN	2376-7839
h-index	37

Publication Information	Publisher: Lippincott Williams and Wilkins，Publishing cycle: ，Journal Type: journal，Open Access Journals: Yes
Basic data	Year of publication: 2015，Proportion of original research papers: 93.15%，Self Citation Rate:0.00%， Gold OA Rate: 99.42%
Journal Fees	$3300Details
Average review cycle	网友分享经验：15 Weeks

Neurology: Genetics

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Phenotype Presentation and Molecular Diagnostic Yield in Non-5q Spinal Muscular Atrophy

Clinical features and outcome of 6 new patients carrying de novo KCNB1 gene mutations

Shared Genetics of Migraine and Gastrointestinal Disorders Implicates Underlying Neurologic Mechanisms Yet Heterogeneous Etiologies

Nemaline Myopathy Type 6 Caused by Variants in the KBTBD13 Gene

Quantitative Muscle MRI to Monitor Disease Progression in Hypokalemic Period Paralysis

Shared Genetics of Migraine and Gastrointestinal Disorders Implicates Underlying Neurologic Mechanisms Yet Heterogeneous Etiologies

Nemaline Myopathy Type 6 Caused by Variants in the KBTBD13 Gene

Quantitative Muscle MRI to Monitor Disease Progression in Hypokalemic Period Paralysis

Global Perspectives on Returning Genetic Research Results in Parkinson Disease

Adult Neuropsychiatric Manifestation of Hartnup Disease With a Novel SLCA6A19 Variant