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1. Full Text Congenital Hypotonia in Toddlerhood
by Steiner, Naomi and Torres, Alcy and Reddy, Arathi and Augustyn, Marilyn
Journal of developmental and behavioral pediatrics : JDBP, ISSN 0196-206X, 09/2017, Volume 38, Issue 7, pp. 556 - 557
CASE: David is a 22-month-old boy who is new to your practice. He recently moved from a rural area in the Midwest. His father is in the United States Air... 
feeding difficulty | congenital hypotonia | BEHAVIORAL SCIENCES | PEDIATRICS | sensory processing disorder | PSYCHOLOGY, DEVELOPMENTAL | Muscle Hypotonia - complications | Developmental Disabilities - etiology | Humans | Infant | Male | Developmental Disabilities - diagnosis | Muscle Hypotonia - congenital | Muscle Hypotonia - diagnosis | Pediatrics | Early intervention | Birth defects | Muscle function | Child development | Index Medicus
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2. Full Text Clinical Reasoning: A neonate with micrognathia and hypotonia
by Vawter-Lee, Marissa M and Seals, Shannon S and Thomas, Cameron W and Venkatesan, Charu
Neurology, ISSN 0028-3878, 02/2016, Volume 86, Issue 8, pp. e80 - e84
A female infant was delivered via cesarean section at 39 weeks' gestation to a 40-year-old mother. Pregnancy was notable for normal fetal movement and amniotic... 
CLINICAL NEUROLOGY | Micrognathism - diagnosis | Muscle Hypotonia - complications | Diagnosis, Differential | Humans | Adult | Female | Infant, Newborn | Micrognathism - complications | Muscle Hypotonia - diagnosis | Index Medicus | Abridged Index Medicus | Resident and Fellow Section | 307 | 185
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3. Full Text Recurrent HERV‐H‐Mediated 3q13.2–q13.31 Deletions Cause a Syndrome of Hypotonia and Motor, Language, and Cognitive Delays
by Shuvarikov, Andrey and Campbell, Ian M and Dittwald, Piotr and Neill, Nicholas J and Bialer, Martin G and Moore, Christine and Wheeler, Patricia G and Wallace, Stephanie E and Hannibal, Mark C and Murray, Michael F and Giovanni, Monica A and Terespolsky, Deborah and Sodhi, Sandi and Cassina, Matteo and Viskochil, David and Moghaddam, Billur and Herman, Kristin and Brown, Chester W and Beck, Christine R and Gambin, Anna and Cheung, Sau Wai and Patel, Ankita and Lamb, Allen N and Shaffer, Lisa G and Ellison, Jay W and Ravnan, J. Britt and Stankiewicz, Paweł and Rosenfeld, Jill A
Human Mutation, ISSN 1059-7794, 10/2013, Volume 34, Issue 10, pp. 1415 - 1423
We describe the molecular and clinical characterization of nine individuals with recurrent, 3.4‐Mb, de novo deletions of 3q13.2–q13.31 detected by chromosomal... 
HERV | microarray | microdeletion | 3q13 | NAHR | developmental delay | recurrent | hypotonia | Microdeletion | HERV-H | Hypotonia | Recurrent | Microarray | Developmental delay | MICRODELETION SYNDROME | INTRACHROMOSOMAL RECOMBINATION | COPY-NUMBER VARIATION | HUMAN ENDOGENOUS RETROVIRUSES | INTERSTITIAL DELETION | GENETICS & HEREDITY | SEGMENTAL DUPLICATIONS | HOMOLOGOUS RECOMBINATION | HUMAN-GENOME | STRUCTURAL VARIATION | GROWTH-ASSOCIATED PROTEIN-43 | Chromosome Breakpoints | Humans | Child, Preschool | Molecular Sequence Data | Infant | Male | Developmental Disabilities - genetics | Endogenous Retroviruses - genetics | Muscle Hypotonia - diagnosis | Young Adult | Base Sequence | Facies | Adult | Female | Child | Developmental Disabilities - diagnosis | Gene Order | Chromosome Deletion | Muscle Hypotonia - genetics | Cognition Disorders - genetics | Syndrome | Cognition Disorders - diagnosis | Phenotype | Sequence Alignment | Comparative Genomic Hybridization | Adolescent | Chromosomes, Human, Pair 3 - genetics | Index Medicus
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4. Full Text Next-generation sequencing-based molecular diagnosis of neonatal hypotonia in Chinese Population
by Wang, Yan and Peng, Wei and Guo, Hong-Yan and Li, Hui and Tian, Jie and Shi, Yu-Jing and Yang, Xiao and Yang, Yao and Zhang, Wan-Qiao and Liu, Xin and Liu, Guan-Nan and Deng, Tao and Sun, Yi-Min and Xing, Wan-Li and Cheng, Jing and Feng, Zhi-Chun
Scientific Reports, ISSN 2045-2322, 06/2016, Volume 6, Issue 1, pp. 29088 - 29088
Neonatal hypotonia is extremely challenging to diagnose because numerous disorders present similar clinical manifestations. Two panels for diagnosing neonatal... 
FLOPPY INFANT | GENETIC-VARIATION | CLINICAL DIAGNOSTICS | SPINAL MUSCULAR-ATROPHY | VARIANTS | MULTIDISCIPLINARY SCIENCES | ANGELMAN-SYNDROME | PHENOTYPE | DISORDERS | PCR-RFLP | PRADER-WILLI-SYNDROME | Genetic Predisposition to Disease | Genetic Testing | Muscle Hypotonia - genetics | Rett Syndrome - diagnosis | Humans | Male | Neuromuscular Diseases - pathology | Neuromuscular Diseases - genetics | Muscle Hypotonia - diagnosis | Muscle Hypotonia - pathology | China | Rett Syndrome - pathology | Pathology, Molecular - methods | Female | High-Throughput Nucleotide Sequencing | Mutation | Neuromuscular Diseases - diagnosis | Rett Syndrome - genetics | Infant, Newborn | Index Medicus
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5. Full Text Monoallelic and Biallelic Variants in EMC1 Identified in Individuals with Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy
by Harel, Tamar and Yesil, Gozde and Bayram, Yavuz and Coban-Akdemir, Zeynep and Charng, Wu-Lin and Karaca, Ender and Al Asmari, Ali and Eldomery, Mohammad K and Hunter, Jill V and Jhangiani, Shalini N and Rosenfeld, Jill A and Pehlivan, Davut and El-Hattab, Ayman W and Saleh, Mohammed A and LeDuc, Charles A and Muzny, Donna and Boerwinkle, Eric and Gibbs, Richard A and Chung, Wendy K and Yang, Yaping and Belmont, John W and Lupski, James R and Baylor-Hopkins Ctr Mendelian Genom and Baylor-Hopkins Center for Mendelian Genomics
The American Journal of Human Genetics, ISSN 0002-9297, 03/2016, Volume 98, Issue 3, pp. 562 - 570
The paradigm of a single gene associated with one specific phenotype and mode of inheritance has been repeatedly challenged. Genotype-phenotype correlations... 
endoplasmic reticulum (ER)-membrane complex | intracellular transport | Whole-exome sequencing | EMC1 | inter-organellar communication | mitochondrial membrane | neurodegeneration | cerebellar atrophy | INTELLECTUAL DISABILITY | ER MEMBRANES | GENE | GENETICS & HEREDITY | NEURODEGENERATION | ENDOPLASMIC-RETICULUM | DOMINANT | ALPHA-SYNUCLEIN | SEQUENCING DATA | MISSENSE MUTATIONS | PARKINSONS-DISEASE | Endoplasmic Reticulum-Associated Degradation | Scoliosis - genetics | Humans | Child, Preschool | Molecular Sequence Data | Male | Developmental Disabilities - genetics | Muscle Hypotonia - diagnosis | Genetic Variation | Atrophy - genetics | Female | Child | Developmental Disabilities - diagnosis | Amino Acid Sequence | Muscle Hypotonia - genetics | Genetic Association Studies | Protein Folding | Cerebellum - pathology | Proteins - genetics | Magnetic Resonance Imaging | Proteins - metabolism | Pedigree | Adolescent | Alleles | Atrophy - diagnosis | Heterozygote | Mutation | Scoliosis - diagnosis | Allelomorphism | Atrophy | Genetic aspects | Genetic variation | Scoliosis | Health aspects | Brain diseases | Genotype & phenotype | Mitochondria | Nuclear magnetic resonance--NMR | Protein folding | Index Medicus | Report
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6. Full Text Mutations in TBCK, Encoding TBC1-Domain-Containing Kinase, Lead to a Recognizable Syndrome of Intellectual Disability and Hypotonia
by Bhoj, Elizabeth J and Li, Dong and Harr, Margaret and Edvardson, Shimon and Elpeleg, Orly and Chisholm, Elizabeth and Juusola, Jane and Douglas, Ganka and Guillen Sacoto, Maria J and Siquier-Pernet, Karine and Saadi, Abdelkrim and Bole-Feysot, Christine and Nitschke, Patrick and Narravula, Alekhya and Walke, Maria and Horner, Michele B and Day-Salvatore, Debra-Lynn and Jayakar, Parul and Vergano, Samantha A. Schrier and Tarnopolsky, Mark A and Hegde, Madhuri and Colleaux, Laurence and Crino, Peter and Hakonarson, Hakon
The American Journal of Human Genetics, ISSN 0002-9297, 04/2016, Volume 98, Issue 4, pp. 782 - 788
Through an international multi-center collaboration, 13 individuals from nine unrelated families and affected by likely pathogenic biallelic variants in... 
LEUCINE | PATHWAY | GLUCOSE | MTOR | GENETICS & HEREDITY | Muscle Hypotonia - genetics | Signal Transduction | TOR Serine-Threonine Kinases - metabolism | Humans | Protein-Serine-Threonine Kinases - genetics | Child, Preschool | Male | Continental Population Groups - genetics | Intellectual Disability - genetics | Muscle Hypotonia - diagnosis | Genetic Variation | TOR Serine-Threonine Kinases - genetics | Intellectual Disability - diagnosis | Alleles | Female | Mutation | Child | Genetic aspects | Gene mutations | Health aspects | Mental retardation | Phosphotransferases | Genotype & phenotype | Phosphorylation | Convulsions & seizures | Medical imaging | Collaboration | Cells | Index Medicus | Protein-Serine-Threonine Kinases | Life Sciences | Genetics | TOR Serine-Threonine Kinases | Muscle Hypotonia | Continental Population Groups | Intellectual Disability | Human genetics | Report
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7. Full Text Acute Hypotonia in an Infant
by Sierakowski, Jimme, DO, MPH and Arthur, Jason, MD, MPH and Wylie, Todd, MD, MPH
Journal of Emergency Medicine, ISSN 0736-4679, 2017, Volume 52, Issue 6, pp. e245 - e247
Abstract Background Acute flaccid myelitis (AFM) is increasing in incidence in the United States and presenting to emergency departments (EDs) across the... 
Emergency | acute flaccid paralysis | hypotonia | acute flaccid myelitis | EMERGENCY MEDICINE | CHILDREN | Immunoglobulins - pharmacology | Methylprednisolone Hemisuccinate - therapeutic use | Methylprednisolone Hemisuccinate - pharmacology | Humans | Magnetic Resonance Imaging - methods | Infant | Enterovirus Infections - physiopathology | Muscle Hypotonia - diagnosis | Muscle Hypotonia - etiology | Muscle Hypotonia - physiopathology | Enterovirus Infections - complications | Emergency Service, Hospital - organization & administration | Female | Steroids - pharmacology | Steroids - therapeutic use | Immunoglobulins - therapeutic use | Immunologic Factors - pharmacology | Immunologic Factors - therapeutic use | Virus diseases | Medical colleges | Emergency medicine | Children's hospitals | Children | Paralysis | Health aspects | Index Medicus
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8. Full Text WAC loss-of-function mutations cause a recognisable syndrome characterised by dysmorphic features, developmental delay and hypotonia and recapitulate 10p11.23 microdeletion syndrome
by DeSanto, Cori and D'Aco, Kristin and Araujo, Gabriel C and Shannon, Nora and Study, DDD and Vernon, Hilary and Rahrig, April and Monaghan, Kristin G and Niu, Zhiyv and Vitazka, Patrik and Dodd, Jonathan and Tang, Sha and Manwaring, Linda and Martir-Negron, Arelis and Schnur, Rhonda E and Juusola, Jane and Schroeder, Audrey and Pan, Vivian and Helbig, Katherine L and Friedman, Bethany and Shinawi, Marwan and DDD Study
Journal of Medical Genetics, ISSN 0022-2593, 11/2015, Volume 52, Issue 11, pp. 754 - 761
BackgroundRare de novo mutations have been implicated as a significant cause of idiopathic intellectual disability. Large deletions encompassing 10p11.23 have... 
SCOC | Clinical genetics | SEVERE INTELLECTUAL DISABILITY | NONSENSE | GENETICS & HEREDITY | Genetics | STARVATION-INDUCED AUTOPHAGY | Behavioral Symptoms - diagnosis | Muscle Hypotonia - genetics | Genetic Association Studies | Humans | Child, Preschool | Infant | Male | Developmental Disabilities - genetics | Syndrome | Muscle Hypotonia - diagnosis | Exome | Pregnancy | Behavioral Symptoms - genetics | DNA Mutational Analysis | Abnormalities, Multiple - diagnosis | Adaptor Proteins, Signal Transducing - genetics | Adult | Female | Mutation | Child | Developmental Disabilities - diagnosis | Abnormalities, Multiple - genetics | Infant, Newborn | Phenotype | Gene mutations | Analysis | Genetic aspects | Research | Developmental delay | Risk factors | Index Medicus
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9. De novo missense mutations in NALCN cause developmental and intellectual impairment with hypotonia
by Fukai, Ryoko and Saitsu, Hirotomo and Okamoto, Nobuhiko and Sakai, Yasunari and Fattal-Valevski, Aviva and Masaaki, Shiina and Kitai, Yukihiro and Torio, Michiko and Kojima-Ishii, Kanako and Ihara, Kenji and Chernuha, Veronika and Nakashima, Mitsuko and Miyatake, Satoko and Tanaka, Fumiaki and Miyake, Noriko and Matsumoto, Naomichi
Journal of Human Genetics, ISSN 1434-5161, 05/2016, Volume 61, Issue 5, pp. 451 - 455
Three recessive mutations in the sodium leak channel, nonselective (NALCN) have been reported to cause intellectual disability and hypotonia. In addition, 14... 
EXCITABILITY | CRYSTAL-STRUCTURE | LEAK CHANNEL | SERVER | DISEASE | GENETICS & HEREDITY | VOLTAGE-GATED SODIUM | DELAY | Muscle Hypotonia - genetics | Humans | Child, Preschool | Models, Molecular | Genotype | Infant | Male | Developmental Disabilities - genetics | Mutation, Missense | Sequence Analysis, DNA | Syndrome | Intellectual Disability - genetics | Muscle Hypotonia - diagnosis | Phenotype | Sodium Channels - chemistry | Intellectual Disability - diagnosis | Alleles | Female | Heterozygote | Protein Conformation | Sodium Channels - genetics | Developmental Disabilities - diagnosis
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10. Full Text Evaluation of the pediatric patient with hypotonia: Don't forget the hypotonia-cystinuria syndrome
by Jaeken, Jaak and Creemers, John and Régal, Luc
Developmental Medicine and Child Neurology, ISSN 0012-1622, 03/2012, Volume 54, Issue 3, pp. 288 - 288
PEDIATRICS | PREPL | CLINICAL NEUROLOGY | Humans | Muscle Hypotonia - genetics | Muscle Hypotonia - diagnosis | Index Medicus
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11. Full Text Identification of a novel homozygous UNC80 variant in a child with infantile hypotonia with psychomotor retardation and characteristic facies-2 (IHPRF2)
by Obeid, Tasneem and Hamzeh, Abdul Rezzak and Saif, Fatima and Nair, Pratibha and Mohamed, Madiha and Al-Ali, Mahmoud Taleb and Bastaki, Fatma
Metabolic Brain Disease, ISSN 0885-7490, 6/2018, Volume 33, Issue 3, pp. 869 - 873
The UNC80 gene encodes for a large component of the NALCN sodium-leak channel complex that regulates the basal excitability of the nervous system. In this... 
Biochemistry, general | UNC80 gene | Neurology | Neurosciences | Biomedicine | Intellectual disability | Psychomotor retardation | Epilepsy | Metabolic Diseases | Oncology | Emirati | Novel mutation | COMPLEX | SEVERE INTELLECTUAL DISABILITY | UNC-80 | NEUROSCIENCES | PUTATIVE CATION CHANNEL | ENCEPHALOPATHY | ELEGANS | ENDOCRINOLOGY & METABOLISM | MUTATIONS | Muscle Hypotonia - genetics | Membrane Proteins - genetics | Humans | Mutation - genetics | Intellectual Disability - genetics | Muscle Hypotonia - diagnosis | Carrier Proteins - genetics | Homozygote | Phenotype | Pedigree | Adolescent | Facies | Epilepsy - genetics | Female | Nucleotide sequencing | DNA sequencing | Phenotypes | Hypotonia | Sodium | Parents | Excitability | Nervous system | Mutation | Mental retardation | Index Medicus
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12. Full Text BCL11A frameshift mutation associated with dyspraxia and hypotonia affecting the fine, gross, oral, and speech motor systems
by Soblet, Julie and Dimov, Ivan and Graf von Kalckreuth, Clemens and Cano‐Chervel, Julie and Baijot, Simon and Pelc, Karin and Sottiaux, Martine and Vilain, Catheline and Smits, Guillaume and Deconinck, Nicolas
American Journal of Medical Genetics Part A, ISSN 1552-4825, 01/2018, Volume 176, Issue 1, pp. 201 - 208
We report the case of a 7-year-old male of Western European origin presenting with moderate intellectual disability, severe childhood apraxia of speech in the... 
childhood apraxia of speech | exome sequencing | language delay | BCL11A | intellectual disability | MICRODELETION | LANGUAGE | MENTAL-RETARDATION | PHENOTYPE | CTIP1 | DELETION | GENE | GENETICS & HEREDITY | PATIENT | HAPLOINSUFFICIENCY CAUSES | EXPRESSION | Brain - diagnostic imaging | Frameshift Mutation | Muscle Hypotonia - genetics | Genetic Association Studies | Humans | Abnormalities, Multiple | Infant | Male | Brain - abnormalities | Genetic Loci | Sequence Analysis, DNA | Intellectual Disability - genetics | Muscle Hypotonia - diagnosis | Whole Exome Sequencing | Carrier Proteins - genetics | Phenotype | Comparative Genomic Hybridization | Apraxias - genetics | Intellectual Disability - diagnosis | Apraxias - diagnosis | Facies | Nuclear Proteins - genetics | Language acquisition | Apraxia | Genetic aspects | Motor systems | Clinical aspects | Language | Clonal deletion | Cognitive ability | Frameshift mutation | Speech | Cognition | Children | Mutation | Gene deletion | Index Medicus | Clinical Report | Clinical Reports
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13. Full Text NALCN dysfunction as a cause of disordered respiratory rhythm with central apnea
by Campbell, Jamie and FitzPatrick, David R and Azam, Tara and Gibson, Neil A and Somerville, Laura and Joss, Shelagh K and Urquhart, Don S and Deciphering Dev Disorders Study and Deciphering Developmental Disorders Study
Pediatrics, ISSN 0031-4005, 04/2018, Volume 141, Issue Suppl 5, pp. S485 - S490
The sodium leak channel nonselective protein (NALCN) is a regulator of the pacemaker neurons that are responsible for rhythmic behavior (including... 
INTELLECTUAL DISABILITY | OXYGEN | SPLICE-SITE MUTATION | PEDIATRICS | CHANNEL | HYPOTONIA | Muscle Hypotonia - genetics | Humans | Male | Developmental Disabilities - genetics | Oxygen Inhalation Therapy | Sleep Apnea, Central - diagnosis | Muscle Hypotonia - diagnosis | Sleep Apnea, Central - therapy | Female | Sleep Apnea, Central - genetics | Sodium Channels - genetics | Mutation | Child | Developmental Disabilities - diagnosis | Sleep apnea syndromes | Research | Diagnosis | Gene mutations | Neurons | Risk factors | Pediatrics | Oxygen | Cognitive ability | Impairment | Action potential | Rhythm | Sleep apnea | Rhythms | Proteins | Sleep disorders | Hypotonia | Sleep | Apnea | Sodium | Respiratory diseases | Membrane potential | Dystrophy | Children | Respiration | Index Medicus | Abridged Index Medicus
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