{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Dore R"],"funding":["Swiss National Science Foundation","NIDA NIH HHS","National Institutes of Health","Wellcome Trust"],"pagination":["101506"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC12260708"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["27(9)"],"pubmed_abstract":["<h4>Purpose</h4>Synaptic communication deficits are central to many neurodevelopmental disorders. However, for rare monogenic conditions, these disorders remain poorly defined, with limited understanding of their molecular etiology. A homozygous frameshift variant in the synaptic cell adhesion molecule ELFN1 was reported in a family with 3 affected siblings with epileptic encephalopathy, alongside a missense variant of uncertain significance in a cohort study involving a family with intellectual disability. Therefore, we sought to evaluate the role and mechanism of biallelic ELFN1 variants in disease pathogenesis.<h4>Methods</h4>We describe 8 newly identified individuals from 5 unrelated families, all carrying homozygous ELFN1 variants, including frameshift and in-frame deletions. By integ"],"journal":["Genetics in medicine : official journal of the American College of Medical Genetics"],"pubmed_title":["ELFN1 deficiency: The mechanistic basis and phenotypic spectrum of a neurodevelopmental disorder with epilepsy."],"pmcid":["PMC12260708"],"funding_grant_id":["R01 DA056414","216615"],"pubmed_authors":["Anwar I","Douglas J","Dasari S","Cole FS","Undiagnosed Diseases Network","Chang CT","Emrick LT","McRoy E","Skelton T","Ludlam WG","Wener M","Maroofian R","Novacic D","Callaway K","Attaripour S","Taylor H","Rajagopalan R","Worley K","Sutton S","Cuddapah V","Butte MJ","Walker M","Jobanputra V","Stoler JM","Ezell K","Dickson P","Jean-Marie O","Karasozen Y","Leppig KA","Bonner D","Gropman A","Alves C","Seto E","Vetrini F","Coakley TR","Pallais JC","Fieg EL","Bellen HJ","Acosta MT","Hurst A","Posey JE","Lanza IR","Ansar M","Rebelo A","Kheirollahi M","Silverman EK","Dargie NK","Sirugo G","Miller D","Jarvik GP","Vogel TP","Adams DR","Butterfield R","Martin MG","Byers P","Shelkowitz E","Zahid M","Fisher PG","Fogel BL","Suri M","Mahoney R","Antonarakis SE","Copmans D","Lanpher BC","Scott DA","Smith CA","Vilain E","Phillips JA","Whitlock J","Movsesyan N","Petcharet L","Sweetser DA","Frederiksen H","Ware SM","Alvey J","Tran AA","Dore R","Macnamara EF","Cobban LA","Nicholas TJ","Almalvez M","Raper A","Davis J","Korf B","Tarakad A","Paul A","Liaqat K","Marth G","Cogan JD","Allenspach E","Mulvihill L","Dehghani M","Houlden H","Tabor HK","Bivona S","Wenger T","Karimiani EG","Pusey Swerdzewski BN","Gonzalez JM","Bejerano G","Mozaffar T","Mantcheva L","Might M","Craigen WJ","Wangler MF","Pak S","Zuchner S","Hisama FM","Bayrak-Toydemir P","Martin BA","Longo N","Ketkar S","Rosenfeld JA","Skraban C","Balton E","Mao R","Sullivan K","Liu P","Wambach J","Alvarez RL","Lalani SR","Dorrani N","Parker NH","Blue E","Boyden S","Orengo JP","Thorson W","Wheeler MT","Hing A","Horike-Pyne M","Henchcliffe C","Martinez-Agosto JA","Baldwin EE","Carvalho G","Kilich G","Bennett J","Bamshad M","Graham BH","Tekin M","Eng CM","Oreshkov S","D'Souza P","Hom J","Kravets E","Peart L","Hanchard N","Treat KM","Nelson SF","Smith KS","Halley MC","Brunori G","Sheppeard S","Sybert V","Latchman K","Delgado M","Khorrami M","Introne W","Tifft CJ","Baldridge D","Lewis RA","Darr K","Solomon B","Holm IA","Solnica-Krezel L","Clark GD","Rodan LH","Afzali B","Corona RI","Kohane IS","Byrd WE","Baldwin E","Beck A","Potocki L","Moretti P","Mirjalili MR","Crouse AB","Glass I","Mikati M","Wegner D","Maghiro AC","Martemyanov KA","Rives L","Coggins M","Andrews A","Kiley D","Kohler JN","Shashi V","Behrens E","Sandmeyer S","Vargas A","Botto L","Ashley EA","Bacino CA","Chanprasert S","Barbouth D","Briere LC","Quinlan A","Malicdan MV","Ruzhnikov M","Ny A","Striano P","Welt CK","Wood H","Beggs AH","Marwaha S","Nakano-Okuno M","Huang Y","Decleve A","Hamid R","Fu J","Mitchell B","Reuter CM","Xiao C","Dai H","Spillmann RC","Sisco K","Goddard PC","Martinez-Agosto J","Vanderver A","Glanton E","Balasubramanyam A","Shin J","Burrage LC","Morimoto M","Schoch K","Marom R","Ungar RA","Sunyaev SR","Eghbal F","Toro C","Abdenur J","Singh K","Pace L","Lee BH","Chao HT","Cassini T","Esteves C","Huang A","Oglesbee D","Velinder M","McConkie-Rosell A","Stergachis A","Maduro VV","Ganetzky R","Yamamoto S","Viskochil D","Carey J","Sampson JB","Bademci G","Akram S","Damseh NS","Ward A","High F","Bernstein JA","Berry GT","Tan Q","Rader DJ","Burke EA","Rodriguez M","Kobren SN","LeBlanc K","Lam C","Rossignol F","Walley NM","Movahedinia M","Pinto E Vairo F","Hassey K","Ward PA","Vahidi Mehrjardi MY","Earl D","MacRae CA","Hubshman MW","Rosenthal E","Chinn I","Klee E","Doherty D","Mirzaa G","Corner B","Conboy E","Allworth A","Maas RL","Mulvihill JJ","Loscalzo J","Gahl WA","Schedl T","Rao DA","Jayadev S","Schimmenti L","McMinn A","Dipple K","Kanca O","Al-Beshri A","Neumann S","Wolfe LA","Overbury R","Korrick S","Raskind W","Dell'Angelica EC","Borja N","Westerfield M","Wahl CE","Sabaii M","Barrick R"],"additional_accession":[]},"is_claimable":false,"name":"ELFN1 deficiency: The mechanistic basis and phenotypic spectrum of a neurodevelopmental disorder with epilepsy.","description":"<h4>Purpose</h4>Synaptic communication deficits are central to many neurodevelopmental disorders. However, for rare monogenic conditions, these disorders remain poorly defined, with limited understanding of their molecular etiology. A homozygous frameshift variant in the synaptic cell adhesion molecule ELFN1 was reported in a family with 3 affected siblings with epileptic encephalopathy, alongside a missense variant of uncertain significance in a cohort study involving a family with intellectual disability. Therefore, we sought to evaluate the role and mechanism of biallelic ELFN1 variants in disease pathogenesis.<h4>Methods</h4>We describe 8 newly identified individuals from 5 unrelated families, all carrying homozygous ELFN1 variants, including frameshift and in-frame deletions. By integ","dates":{"release":"2025-01-01T00:00:00Z","publication":"2025 Sep","modification":"2026-05-09T17:54:51.423Z","creation":"2026-04-08T01:08:35.793Z"},"accession":"S-EPMC12260708","cross_references":{"pubmed":["40576023"],"doi":["10.1016/j.gim.2025.101506"]}}